A monosaccharide in sweet fruits and honey that is soluble in water, alcohol, or ether. It is used as a preservative and an intravenous infusion in parenteral feeding.
A class of enzymes that catalyzes the phosphorylation of fructose in the presence of ATP. EC 2.7.1.-.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
Fructosephosphates are organic compounds resulting from the combination of fructose with a phosphate group, playing crucial roles in various metabolic processes, particularly within carbohydrate metabolism.
An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
Diphosphoric acid esters of fructose. The fructose-1,6- diphosphate isomer is most prevalent. It is an important intermediate in the glycolysis process.
Inborn errors of purine-pyrimidine metabolism refer to genetic disorders resulting from defects in the enzymes responsible for the metabolic breakdown and synthesis of purines and pyrimidines, leading to the accumulation of toxic metabolites or deficiency of necessary nucleotides, causing various clinical manifestations such as neurological impairment, kidney problems, and developmental delays.
Inborn errors of carbohydrate metabolism are genetic disorders that result from enzyme deficiencies or transport defects in the metabolic pathways responsible for breaking down and processing carbohydrates, leading to accumulation of toxic intermediates or energy deficits, and typically presenting with multisystem clinical manifestations.
Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.
Hexosediphosphates are organic compounds consisting of a hexose sugar molecule, such as glucose, linked to two phosphate groups, playing crucial roles in energy metabolism and signaling pathways in living organisms.
An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
The chemical reactions involved in the production and utilization of various forms of energy in cells.
Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
Physiological processes in biosynthesis (anabolism) and degradation (catabolism) of LIPIDS.
An enzyme that catalyzes the conversion of D-fructose 1,6-bisphosphate and water to D-fructose 6-phosphate and orthophosphate. EC 3.1.3.11.
An allosteric enzyme that regulates glycolysis by catalyzing the transfer of a phosphate group from ATP to fructose-6-phosphate to yield fructose-1,6-bisphosphate. D-tagatose- 6-phosphate and sedoheptulose-7-phosphate also are acceptors. UTP, CTP, and ITP also are donors. In human phosphofructokinase-1, three types of subunits have been identified. They are PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE; PHOSPHOFRUCTOKINASE-1, LIVER TYPE; and PHOSPHOFRUCTOKINASE-1, TYPE C; found in platelets, brain, and other tissues.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
A hexose transporter that mediates FRUCTOSE transport in SKELETAL MUSCLE and ADIPOCYTES and is responsible for luminal uptake of dietary fructose in the SMALL INTESTINE.
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
An infant during the first month after birth.
Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
A mononuclear Fe(II)-dependent oxygenase, this enzyme catalyzes the conversion of homogentisate to 4-maleylacetoacetate, the third step in the pathway for the catabolism of TYROSINE. Deficiency in the enzyme causes ALKAPTONURIA, an autosomal recessive disorder, characterized by homogentisic aciduria, OCHRONOSIS and ARTHRITIS. This enzyme was formerly characterized as EC 1.13.1.5 and EC 1.99.2.5.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy.
Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.
An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
An enzyme of the lyase class that catalyzes the cleavage of fructose 1,6-biphosphate to form dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. The enzyme also acts on (3S,4R)-ketose 1-phosphates. The yeast and bacterial enzymes are zinc proteins. (Enzyme Nomenclature, 1992) E.C. 4.1.2.13.
A metabolic process that converts GLUCOSE into two molecules of PYRUVIC ACID through a series of enzymatic reactions. Energy generated by this process is conserved in two molecules of ATP. Glycolysis is the universal catabolic pathway for glucose, free glucose, or glucose derived from complex CARBOHYDRATES, such as GLYCOGEN and STARCH.
A territory of Australia consisting of Canberra, the national capital and surrounding land. It lies geographically within NEW SOUTH WALES and was established by law in 1988.
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.
The chemical reactions that occur within the cells, tissues, or an organism. These processes include both the biosynthesis (ANABOLISM) and the breakdown (CATABOLISM) of organic materials utilized by the living organism.
A mitochondrial flavoprotein, this enzyme catalyzes the oxidation of 3-methylbutanoyl-CoA to 3-methylbut-2-enoyl-CoA using FAD as a cofactor. Defects in the enzyme, is associated with isovaleric acidemia (IVA).
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
Injectable form of VITAMIN B 12 that has been used therapeutically to treat VITAMIN B 12 DEFICIENCY.
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
Incorrect diagnoses after clinical examination or technical diagnostic procedures.
A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.
Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.
An allosteric enzyme that regulates glycolysis and gluconeogenesis by catalyzing the transfer of a phosphate group from ATP to fructose-6-phosphate to yield fructose-2,6-bisphosphate, an allosteric effector for the other 6-phosphofructokinase, PHOSPHOFRUCTOKINASE-1. Phosphofructokinase-2 is bifunctional: the dephosphorylated form is a kinase and the phosphorylated form is a phosphatase that breaks down fructose-2,6-bisphosphate to yield fructose-6-phosphate.
Pentanoic acid, also known as valeric acid, is a carboxylic acid with a 5-carbon chain (C5H10O2), having a distinctive pungent and rancid odor, found in some animals' sweat, certain foods, and produced through wood fermentation.
Carbohydrates present in food comprising digestible sugars and starches and indigestible cellulose and other dietary fibers. The former are the major source of energy. The sugars are in beet and cane sugar, fruits, honey, sweet corn, corn syrup, milk and milk products, etc.; the starches are in cereal grains, legumes (FABACEAE), tubers, etc. (From Claudio & Lagua, Nutrition and Diet Therapy Dictionary, 3d ed, p32, p277)
An enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA by transfer of the carbonyl group. It requires a cobamide coenzyme. A block in this enzymatic conversion leads to the metabolic disease, methylmalonic aciduria. EC 5.4.99.2.
A subclass of enzymes which includes all dehydrogenases acting on carbon-carbon bonds. This enzyme group includes all the enzymes that introduce double bonds into substrates by direct dehydrogenation of carbon-carbon single bonds.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The rate dynamics in chemical or physical systems.
Inborn errors of metal metabolism refer to genetic disorders resulting from mutations in genes encoding proteins involved in the transportation, storage, or utilization of essential metals, leading to imbalances that can cause toxicity or deficiency and subsequent impairment of normal physiological processes.
Substances that sweeten food, beverages, medications, etc., such as sugar, saccharine or other low-calorie synthetic products. (From Random House Unabridged Dictionary, 2d ed)
Glutarates are organic compounds, specifically carboxylic acids, that contain a five-carbon chain with two terminal carboxyl groups and a central methyl group, playing a role in various metabolic processes, including the breakdown of certain amino acids. They can also refer to their salts or esters. Please note that this definition is concise and may not cover all aspects of glutarates in depth.
An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
Enzymes of a subclass of TRANSFERASES that catalyze the transfer of an amidino group from donor to acceptor. EC 2.1.4.
Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.
A nonreducing disaccharide composed of GLUCOSE and FRUCTOSE linked via their anomeric carbons. It is obtained commercially from SUGARCANE, sugar beet (BETA VULGARIS), and other plants and used extensively as a food and a sweetener.
Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.
An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
A flavoprotein enzyme that is responsible for the catabolism of LYSINE; HYDROXYLYSINE; and TRYPTOPHAN. It catalyzes the oxidation of GLUTARYL-CoA to crotonoyl-CoA using FAD as a cofactor. Glutaric aciduria type I is an inborn error of metabolism due to the deficiency of glutaryl-CoA dehydrogenase.

Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria. (1/6)

Alternative splicing of the ketohexokinase (fructokinase) gene generates a "central" predominantly hepatic isoform (ketohexokinase-C) and a more widely distributed ketohexokinase-A. Only the abundant hepatic isoform is known to possess activity, and no function is defined for the lower levels of ketohexokinase-A in peripheral tissues. Hepatic ketohexokinase deficiency causes the benign disorder essential fructosuria. The molecular basis of this has been defined in one family (compound heterozygosity for mutations Gly40Arg and Ala43Thr). Here we show that both ketohexokinase isoforms are indeed active. Ketohexokinase-A has much poorer substrate affinity than ketohexokinase-C for fructose but is considerably more thermostable. The Gly40Arg mutation seems null, rendering both ketohexokinase-A and ketohexokinase-C inactive and largely insoluble. The Ala43Thr mutant retains activity, but this mutation decreases the thermal stability of both ketohexokinase-A and ketohexokinase-C. At physiologic temperature, this results in significant loss of ketohexokinase-C activity but not of ketohexokinase-A. Affected individuals who carry both mutations therefore probably have a selective deficiency of hepatic ketohexokinase, with peripheral ketohexokinase-A being preserved. These findings raise the possibility that ketohexokinase-A serves an unknown physiologic function that remains intact in essential fructosuria. Further mutation analysis in this rare disorder could illuminate the question of whether ketohexokinase-A activity is, unlike that of ketohexokinase-C, physiologically indispensable.  (+info)

Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. (2/6)

The nucleotide sequence of a patient's aldolase B gene was determined and showed a substitution of a single nucleotide (C----A) at position 720 in the coding region, which resulted in the 240th amino acid, a cysteine, being changed to a stop codon (TGC----TGA). By an allele-specific oligonucleotide probe and polymerase chain reaction, the patient was shown to be homozygous for the mutation. To examine whether this mutation causes functional defect of the enzyme, the activity of the aldolase B from the patient, expressed in Escherichia coli by using expression plasmid, was measured. No activity was observed, and the predicted product was recovered from E. coli expression plasmid, indicating that this nonsense mutation was the cause of aldolase B deficiency.  (+info)

Isolated fructose malabsorption. (3/6)

A patient with isolated fructose malabsorption presented with diarrhoea and colic during the first year of life and subsequently responded to a fructose free diet. Fructose malabsorption has been implicated in some cases of irritable bowel syndrome in adults and may also be an infrequently recognised cause of gastrointestinal symptoms in children.  (+info)

Molecular evidence for compound heterozygosity in hereditary fructose intolerance. (4/6)

Hereditary fructose intolerance (HFI) is an inborn error of metabolism, inherited as an autosomal recessive disorder and caused by a decrease in the activity of fructose-1-phosphate aldolase (aldolase B) in affected individuals. Investigation of the molecular basis of HFI is reported here by the identification of two molecular lesions in the aldolase B gene of the HFI individual. Using polymerase chain reaction to specifically amplify exons at this locus and T7 polymerase for the sequence determination of these double-stranded fragments, we show the mutational heterogeneity of the proband. One allele, previously indicated by restriction analysis, was confirmed as A149P (Ala 149 to Pro in exon 5). The other allele was identified as a 4-bp deletion found in exon 4, a deletion which causes a frameshift at codon 118, resulting in a truncated protein of 132 amino acids. Segregation of these mutant alleles in the proband's family was shown by using allele-specific oligodeoxynucleotides to probe blots of amplified DNA. The techniques employed here represent a rapid and efficient method for detection of other mutations in families with this disease. In addition, the ability to detect mutant alleles by allele-specific hybridization offers a new method for definitive diagnosis, a method which avoids a fructose loading or liver-biopsy examination.  (+info)

Partial aldolase B gene deletions in hereditary fructose intolerance. (5/6)

Hereditary fructose intolerance (HFI) is an autosomal recessive condition caused by a deficiency of aldolase B. We have recently shown that three point mutations in this gene account for approximately 85% of HFI alleles in Europe and the United States and are thus of diagnostic importance. In this paper we define three new lesions in the aldolase B gene: two are large deletions, one of 1.65 kb and one of 1.4 kb; the third is a small deletion of 4 bp. We have determined the breakpoints of these deletions and have demonstrated that the presence of such lesions may complicate the genotyping of individuals for diagnosis of HFI.  (+info)

Inborn errors of fructose metabolism. (6/6)

A review is presented of genetic defects affecting fructose metabolism in humans. Presently, six conditions have been recognized: fructose malabsorption, fructokinase deficiency, aldolase A and aldolase B deficiency, fructose-1,6-diphosphatase deficiency and D-glyceric aciduria. Clinical presentations of these conditions, enzymatic and/or molecular defects, pathophysiological consequences, and modes of treatments are discussed.  (+info)

Fructose is a simple monosaccharide, also known as "fruit sugar." It is a naturally occurring carbohydrate that is found in fruits, vegetables, and honey. Fructose has the chemical formula C6H12O6 and is a hexose, or six-carbon sugar.

Fructose is absorbed directly into the bloodstream during digestion and is metabolized primarily in the liver. It is sweeter than other sugars such as glucose and sucrose (table sugar), which makes it a popular sweetener in many processed foods and beverages. However, consuming large amounts of fructose can have negative health effects, including increasing the risk of obesity, diabetes, and heart disease.

Fructokinase is an enzyme that phosphorylates fructose into fructose-1-phosphate in the metabolism of dietary sugars. It plays a crucial role in fructose metabolism, particularly in the liver, kidneys, and intestines. In humans, there are several isoforms of fructokinase, including ketohexokinase (KHK-A and KHK-C) and liver fructokinase (KHK-B). Disorders in fructose metabolism, such as hereditary fructose intolerance, can result from mutations in the gene encoding for fructokinase.

Inborn errors of metabolism (IEM) refer to a group of genetic disorders caused by defects in enzymes or transporters that play a role in the body's metabolic processes. These disorders result in the accumulation or deficiency of specific chemicals within the body, which can lead to various clinical manifestations, such as developmental delay, intellectual disability, seizures, organ damage, and in some cases, death.

Examples of IEM include phenylketonuria (PKU), maple syrup urine disease (MSUD), galactosemia, and glycogen storage diseases, among many others. These disorders are typically inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.

Early diagnosis and management of IEM are crucial to prevent or minimize complications and improve outcomes. Treatment options may include dietary modifications, supplementation with missing enzymes or cofactors, medication, and in some cases, stem cell transplantation or gene therapy.

Inborn errors of fructose metabolism refer to genetic disorders that affect the body's ability to break down and process fructose, a simple sugar found in fruits, vegetables, and honey. These disorders are caused by mutations in genes responsible for encoding enzymes involved in fructose metabolism.

The two main types of inborn errors of fructose metabolism are:

1. Hereditary Fructose Intolerance (HFI): This is a rare genetic disorder caused by a deficiency of the enzyme aldolase B, which is necessary for the breakdown of fructose in the liver. When individuals with HFI consume fructose or sucrose (a disaccharide that contains fructose and glucose), they experience a buildup of toxic metabolites, leading to symptoms such as vomiting, abdominal pain, hypoglycemia, and in severe cases, liver damage and failure.
2. Fructose-1,6-bisphosphatase Deficiency (FBPase Deficiency): This is a rare autosomal recessive disorder caused by a deficiency of the enzyme fructose-1,6-bisphosphatase, which is essential for gluconeogenesis (the process of generating glucose from non-carbohydrate sources). Individuals with FBPase Deficiency experience symptoms such as hypoglycemia, lactic acidosis, and hyperventilation, particularly during periods of fasting or illness.

Both disorders can be managed through dietary restrictions and close monitoring of blood sugar levels. In severe cases, enzyme replacement therapy or liver transplantation may be considered.

Fructose-1,6-bisphosphate (also known as fructose 1,6-diphosphate or Fru-1,6-BP) is the chemical compound that plays a crucial role in cellular respiration and glucose metabolism. It is not accurate to refer to "fructosephosphates" as a medical term, but fructose-1-phosphate and fructose-1,6-bisphosphate are important fructose phosphates with specific functions in the body.

Fructose-1-phosphate is an intermediate metabolite formed during the breakdown of fructose in the liver, while fructose-1,6-bisphosphate is a key regulator of glycolysis, the process by which glucose is broken down to produce energy in the form of ATP. Fructose-1,6-bisphosphate allosterically regulates the enzyme phosphofructokinase, which is the rate-limiting step in glycolysis, and its levels are tightly controlled to maintain proper glucose metabolism. Dysregulation of fructose metabolism has been implicated in various metabolic disorders, including insulin resistance, type 2 diabetes, and nonalcoholic fatty liver disease (NAFLD).

Fructose-1,6-diphosphatase deficiency is a rare inherited metabolic disorder that affects the body's ability to metabolize carbohydrates, particularly fructose and glucose. This enzyme deficiency results in an accumulation of certain metabolic intermediates, which can cause a variety of symptoms, including hypoglycemia (low blood sugar), lactic acidosis, hyperventilation, and seizures. The condition is typically diagnosed in infancy or early childhood and is treated with a diet low in fructose and other sugars that can't be metabolized properly due to the enzyme deficiency. If left untreated, the disorder can lead to serious complications, such as brain damage and death.

Inborn errors of amino acid metabolism refer to genetic disorders that affect the body's ability to properly break down and process individual amino acids, which are the building blocks of proteins. These disorders can result in an accumulation of toxic levels of certain amino acids or their byproducts in the body, leading to a variety of symptoms and health complications.

There are many different types of inborn errors of amino acid metabolism, each affecting a specific amino acid or group of amino acids. Some examples include:

* Phenylketonuria (PKU): This disorder affects the breakdown of the amino acid phenylalanine, leading to its accumulation in the body and causing brain damage if left untreated.
* Maple syrup urine disease: This disorder affects the breakdown of the branched-chain amino acids leucine, isoleucine, and valine, leading to their accumulation in the body and causing neurological problems.
* Homocystinuria: This disorder affects the breakdown of the amino acid methionine, leading to its accumulation in the body and causing a range of symptoms including developmental delay, intellectual disability, and cardiovascular problems.

Treatment for inborn errors of amino acid metabolism typically involves dietary restrictions or supplementation to manage the levels of affected amino acids in the body. In some cases, medication or other therapies may also be necessary. Early diagnosis and treatment can help prevent or minimize the severity of symptoms and health complications associated with these disorders.

Glucose is a simple monosaccharide (or single sugar) that serves as the primary source of energy for living organisms. It's a fundamental molecule in biology, often referred to as "dextrose" or "grape sugar." Glucose has the molecular formula C6H12O6 and is vital to the functioning of cells, especially those in the brain and nervous system.

In the body, glucose is derived from the digestion of carbohydrates in food, and it's transported around the body via the bloodstream to cells where it can be used for energy. Cells convert glucose into a usable form through a process called cellular respiration, which involves a series of metabolic reactions that generate adenosine triphosphate (ATP)—the main currency of energy in cells.

Glucose is also stored in the liver and muscles as glycogen, a polysaccharide (multiple sugar) that can be broken down back into glucose when needed for energy between meals or during physical activity. Maintaining appropriate blood glucose levels is crucial for overall health, and imbalances can lead to conditions such as diabetes mellitus.

Inborn errors of lipid metabolism refer to genetic disorders that affect the body's ability to break down and process lipids (fats) properly. These disorders are caused by defects in genes that code for enzymes or proteins involved in lipid metabolism. As a result, toxic levels of lipids or their intermediates may accumulate in the body, leading to various health issues, which can include neurological problems, liver dysfunction, muscle weakness, and cardiovascular disease.

There are several types of inborn errors of lipid metabolism, including:

1. Disorders of fatty acid oxidation: These disorders affect the body's ability to convert long-chain fatty acids into energy, leading to muscle weakness, hypoglycemia, and cardiomyopathy. Examples include medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).
2. Disorders of cholesterol metabolism: These disorders affect the body's ability to process cholesterol, leading to an accumulation of cholesterol or its intermediates in various tissues. Examples include Smith-Lemli-Opitz syndrome and lathosterolosis.
3. Disorders of sphingolipid metabolism: These disorders affect the body's ability to break down sphingolipids, leading to an accumulation of these lipids in various tissues. Examples include Gaucher disease, Niemann-Pick disease, and Fabry disease.
4. Disorders of glycerophospholipid metabolism: These disorders affect the body's ability to break down glycerophospholipids, leading to an accumulation of these lipids in various tissues. Examples include rhizomelic chondrodysplasia punctata and abetalipoproteinemia.

Inborn errors of lipid metabolism are typically diagnosed through genetic testing and biochemical tests that measure the activity of specific enzymes or the levels of specific lipids in the body. Treatment may include dietary modifications, supplements, enzyme replacement therapy, or gene therapy, depending on the specific disorder and its severity.

Neonatal screening is a medical procedure in which specific tests are performed on newborn babies within the first few days of life to detect certain congenital or inherited disorders that are not otherwise clinically apparent at birth. These conditions, if left untreated, can lead to serious health problems, developmental delays, or even death.

The primary goal of neonatal screening is to identify affected infants early so that appropriate treatment and management can be initiated as soon as possible, thereby improving their overall prognosis and quality of life. Commonly screened conditions include phenylketonuria (PKU), congenital hypothyroidism, galactosemia, maple syrup urine disease, sickle cell disease, cystic fibrosis, and hearing loss, among others.

Neonatal screening typically involves collecting a small blood sample from the infant's heel (heel stick) or through a dried blood spot card, which is then analyzed using various biochemical, enzymatic, or genetic tests. In some cases, additional tests such as hearing screenings and pulse oximetry for critical congenital heart disease may also be performed.

It's important to note that neonatal screening is not a diagnostic tool but rather an initial step in identifying infants who may be at risk of certain conditions. Positive screening results should always be confirmed with additional diagnostic tests before any treatment decisions are made.

I'm sorry for any confusion, but "Fructosediphosphates" is not a recognized term in medicine or biochemistry. It's possible there may be a spelling mistake or misunderstanding in the term you're looking for.

If you meant "Fructose 1,6-bisphosphate," that is a key intermediate in carbohydrate metabolism. It's formed from fructose 6-phosphate in the process of glucose breakdown (glycolysis) and is then used in the generation of energy through the citric acid cycle.

If these terms are not what you were looking for, could you please provide more context or check the spelling? I'm here to help!

Inborn errors of purine-pyrimidine metabolism refer to genetic disorders that result in dysfunctional enzymes involved in the metabolic pathways of purines and pyrimidines. These are essential components of nucleotides, which in turn are building blocks of DNA and RNA.

Inherited as autosomal recessive or X-linked recessive traits, these disorders can lead to an accumulation of toxic metabolites, a deficiency of necessary compounds, or both. Clinical features vary widely depending on the specific enzyme defect but may include neurologic symptoms, kidney problems, gout, and/or immunodeficiency.

Examples of such disorders include Lesch-Nyhan syndrome (deficiency of hypoxanthine-guanine phosphoribosyltransferase), adenosine deaminase deficiency (leading to severe combined immunodeficiency), and orotic aciduria (due to defects in pyrimidine metabolism). Early diagnosis and management are crucial to improve outcomes.

Inborn errors of carbohydrate metabolism refer to genetic disorders that affect the body's ability to break down and process carbohydrates, which are sugars and starches that provide energy for the body. These disorders are caused by defects in enzymes or transport proteins that play a critical role in the metabolic pathways involved in carbohydrate metabolism.

There are several types of inborn errors of carbohydrate metabolism, including:

1. Galactosemia: This disorder affects the body's ability to metabolize the sugar galactose, which is found in milk and other dairy products. It is caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase.
2. Glycogen storage diseases: These disorders affect the body's ability to store and break down glycogen, which is a complex carbohydrate that serves as a source of energy for the body. There are several types of glycogen storage diseases, each caused by a deficiency in a different enzyme involved in glycogen metabolism.
3. Hereditary fructose intolerance: This disorder affects the body's ability to metabolize the sugar fructose, which is found in fruits and sweeteners. It is caused by a deficiency of the enzyme aldolase B.
4. Pentose phosphate pathway disorders: These disorders affect the body's ability to metabolize certain sugars and generate energy through the pentose phosphate pathway. They are caused by defects in enzymes involved in this pathway.

Symptoms of inborn errors of carbohydrate metabolism can vary widely depending on the specific disorder and its severity. Treatment typically involves dietary restrictions, supplementation with necessary enzymes or cofactors, and management of complications. In some cases, enzyme replacement therapy or even organ transplantation may be considered.

Inborn errors of steroid metabolism refer to genetic disorders that affect the synthesis or degradation of steroid hormones in the body. Steroids are a group of hormones that include cortisol, aldosterone, sex hormones (estrogens and androgens), and bile acids. These hormones are produced through a series of biochemical reactions called steroidogenesis, which involves several enzymes.

Inborn errors of steroid metabolism occur when there is a mutation in the gene encoding for one or more of these enzymes, leading to impaired steroid synthesis or degradation. This can result in an accumulation of abnormal steroid metabolites or deficiency of essential steroid hormones, causing various clinical manifestations depending on the specific steroid hormone affected and the severity of the enzyme deficiency.

Examples of inborn errors of steroid metabolism include congenital adrenal hyperplasia (CAH), which is caused by defects in the genes encoding for enzymes involved in cortisol synthesis, such as 21-hydroxylase and 11-beta-hydroxylase. CAH can lead to impaired cortisol production, increased production of androgens, and abnormal genital development in affected individuals.

Another example is lipoid congenital adrenal hyperplasia (LCAH), which is caused by a deficiency in the enzyme steroidogenic acute regulatory protein (StAR). LCAH results in impaired transport of cholesterol into the mitochondria, leading to deficient synthesis of all steroid hormones and accumulation of lipids in the adrenal glands.

Inborn errors of steroid metabolism can be diagnosed through various tests, including blood and urine tests to measure steroid levels and genetic testing to identify mutations in the relevant genes. Treatment typically involves replacement therapy with the deficient hormones or inhibition of excessive hormone production.

Hexose diphosphates refer to a class of organic compounds that consist of a hexose sugar molecule (a monosaccharide containing six carbon atoms) linked to two phosphate groups. The most common examples of hexose diphosphates are glucose 1,6-bisphosphate and fructose 1,6-bisphosphate, which play important roles in cellular metabolism.

Glucose 1,6-bisphosphate is involved in the regulation of glycolysis, a process by which glucose is broken down to produce energy in the form of ATP. It acts as an allosteric regulator of several enzymes involved in this pathway and helps to maintain the balance between different metabolic processes.

Fructose 1,6-bisphosphate, on the other hand, is a key intermediate in gluconeogenesis, a process by which cells synthesize glucose from non-carbohydrate precursors. It is also involved in the regulation of glycolysis and helps to control the flow of metabolites through these pathways.

Overall, hexose diphosphates are important regulators of cellular metabolism and play a critical role in maintaining energy homeostasis in living organisms.

Fructose intolerance, also known as hereditary fructose intolerance (HFI), is a genetic disorder that affects the body's ability to metabolize the sugar called fructose, which is found in fruits, vegetables, and processed foods. It is caused by a deficiency of an enzyme called aldolase B, which is necessary for the breakdown and absorption of fructose in the liver.

When individuals with fructose intolerance consume food or drinks containing fructose, the undigested fructose accumulates in the bloodstream and gets absorbed by other organs, leading to a range of symptoms such as abdominal pain, bloating, diarrhea, vomiting, and low blood sugar. Prolonged exposure to high levels of fructose can also cause liver damage, kidney failure, and growth retardation in children.

The diagnosis of fructose intolerance is usually made through a combination of clinical symptoms, genetic testing, and a fructose tolerance test. The treatment for fructose intolerance involves avoiding foods and drinks that contain fructose or limiting their consumption to very small amounts. In some cases, supplementation with enzyme replacement therapy may be recommended.

Inborn urea cycle disorders (UCDs) are a group of rare genetic metabolic disorders caused by deficiencies in one of the enzymes or transporters that make up the urea cycle. The urea cycle is a series of biochemical reactions that occur in liver cells, responsible for removing ammonia, a toxic byproduct of protein metabolism, from the bloodstream.

In UCDs, the impaired function of these enzymes or transporters leads to an accumulation of ammonia in the blood (hyperammonemia), which can cause irreversible brain damage and severe neurological symptoms if left untreated. These disorders are usually inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.

There are six main types of UCDs, classified based on the specific enzyme or transporter deficiency:

1. Carbamoyl phosphate synthetase I (CPS1) deficiency
2. Ornithine transcarbamylase (OTC) deficiency
3. Argininosuccinic aciduria (ASA)
4. Citrullinemia type I or II (CTLN1, CTLN2)
5. Arginase deficiency
6. N-acetylglutamate synthetase (NAGS) deficiency

Symptoms of UCDs can vary widely depending on the severity and specific type of the disorder but may include:

* Vomiting
* Lethargy or irritability
* Seizures
* Tremors or seizure-like activity
* Developmental delays or intellectual disability
* Coma

Early diagnosis and treatment are crucial to prevent long-term neurological damage. Treatment options include dietary restrictions, medications that help remove ammonia from the body, and liver transplantation in severe cases. Regular monitoring of blood ammonia levels and other metabolic markers is essential for managing UCDs effectively.

Metabolic brain diseases are a group of disorders caused by genetic defects that affect the body's metabolism and result in abnormal accumulation of harmful substances in the brain. These conditions are present at birth (inborn) or develop during infancy or early childhood. Examples of metabolic brain diseases that are present at birth include:

1. Phenylketonuria (PKU): A disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, which leads to an accumulation of phenylalanine in the brain and can cause intellectual disability, seizures, and behavioral problems if left untreated.
2. Maple syrup urine disease (MSUD): A disorder caused by a deficiency of the enzyme branched-chain ketoacid dehydrogenase, which leads to an accumulation of branched-chain amino acids in the body and can cause intellectual disability, seizures, and metabolic crisis if left untreated.
3. Urea cycle disorders: A group of disorders caused by defects in enzymes that help remove ammonia from the body. Accumulation of ammonia in the blood can lead to brain damage, coma, or death if not treated promptly.
4. Organic acidemias: A group of disorders caused by defects in enzymes that help break down certain amino acids and other organic compounds. These conditions can cause metabolic acidosis, seizures, and developmental delays if left untreated.

Early diagnosis and treatment of these conditions are crucial to prevent irreversible brain damage and other complications. Treatment typically involves dietary restrictions, supplements, and medications to manage the underlying metabolic imbalance. In some cases, enzyme replacement therapy or liver transplantation may be necessary.

Argininosuccinic aciduria (ASA) is a rare inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate lyase. This enzyme is necessary for the urea cycle, a process that helps rid the body of excess nitrogen produced from protein breakdown. When the urea cycle is not functioning properly, nitrogen accumulates in the form of ammonia, which can be toxic to the brain and other organs.

In ASA, argininosuccinic acid builds up in the blood and urine, giving the condition its name. Symptoms of ASA typically appear within the first few days or weeks of life and may include poor feeding, vomiting, lethargy, seizures, and developmental delay. If left untreated, ASA can lead to serious complications such as intellectual disability, coma, and even death.

Treatment for ASA usually involves a combination of dietary restrictions, medications to reduce ammonia levels, and supplementation with arginine, an amino acid that is not properly metabolized in people with ASA. In some cases, liver transplantation may be necessary. Early diagnosis and treatment are crucial for improving outcomes in individuals with ASA.

Energy metabolism is the process by which living organisms produce and consume energy to maintain life. It involves a series of chemical reactions that convert nutrients from food, such as carbohydrates, fats, and proteins, into energy in the form of adenosine triphosphate (ATP).

The process of energy metabolism can be divided into two main categories: catabolism and anabolism. Catabolism is the breakdown of nutrients to release energy, while anabolism is the synthesis of complex molecules from simpler ones using energy.

There are three main stages of energy metabolism: glycolysis, the citric acid cycle (also known as the Krebs cycle), and oxidative phosphorylation. Glycolysis occurs in the cytoplasm of the cell and involves the breakdown of glucose into pyruvate, producing a small amount of ATP and nicotinamide adenine dinucleotide (NADH). The citric acid cycle takes place in the mitochondria and involves the further breakdown of pyruvate to produce more ATP, NADH, and carbon dioxide. Oxidative phosphorylation is the final stage of energy metabolism and occurs in the inner mitochondrial membrane. It involves the transfer of electrons from NADH and other electron carriers to oxygen, which generates a proton gradient across the membrane. This gradient drives the synthesis of ATP, producing the majority of the cell's energy.

Overall, energy metabolism is a complex and essential process that allows organisms to grow, reproduce, and maintain their bodily functions. Disruptions in energy metabolism can lead to various diseases, including diabetes, obesity, and neurodegenerative disorders.

Hyperammonemia is a medical condition characterized by an excessively high level of ammonia (a toxic byproduct of protein metabolism) in the blood. This can lead to serious neurological symptoms and complications, as ammonia is highly toxic to the brain. Hyperammonemia can be caused by various underlying conditions, including liver disease, genetic disorders that affect ammonia metabolism, certain medications, and infections. It is important to diagnose and treat hyperammonemia promptly to prevent long-term neurological damage or even death. Treatment typically involves addressing the underlying cause of the condition, as well as providing supportive care such as administering medications that help remove ammonia from the blood.

Lipid metabolism is the process by which the body breaks down and utilizes lipids (fats) for various functions, such as energy production, cell membrane formation, and hormone synthesis. This complex process involves several enzymes and pathways that regulate the digestion, absorption, transport, storage, and consumption of fats in the body.

The main types of lipids involved in metabolism include triglycerides, cholesterol, phospholipids, and fatty acids. The breakdown of these lipids begins in the digestive system, where enzymes called lipases break down dietary fats into smaller molecules called fatty acids and glycerol. These molecules are then absorbed into the bloodstream and transported to the liver, which is the main site of lipid metabolism.

In the liver, fatty acids may be further broken down for energy production or used to synthesize new lipids. Excess fatty acids may be stored as triglycerides in specialized cells called adipocytes (fat cells) for later use. Cholesterol is also metabolized in the liver, where it may be used to synthesize bile acids, steroid hormones, and other important molecules.

Disorders of lipid metabolism can lead to a range of health problems, including obesity, diabetes, cardiovascular disease, and non-alcoholic fatty liver disease (NAFLD). These conditions may be caused by genetic factors, lifestyle habits, or a combination of both. Proper diagnosis and management of lipid metabolism disorders typically involves a combination of dietary changes, exercise, and medication.

Fructose-bisphosphatase (FBPase) is an enzyme that plays a crucial role in the regulation of gluconeogenesis, which is the process of generating new glucose molecules from non-carbohydrate sources in the body. Specifically, FBPase is involved in the fourth step of gluconeogenesis, where it catalyzes the conversion of fructose-1,6-bisphosphate to fructose-6-phosphate.

Fructose-1,6-bisphosphate is a key intermediate in both glycolysis and gluconeogenesis, and its conversion to fructose-6-phosphate represents an important regulatory point in these pathways. FBPase is inhibited by high levels of energy charge (i.e., when the cell has plenty of ATP and low levels of ADP), as well as by certain metabolites such as citrate, which signals that there is abundant energy available from other sources.

There are two main isoforms of FBPase in humans: a cytoplasmic form found primarily in the liver and kidney, and a mitochondrial form found in various tissues including muscle and brain. Mutations in the gene that encodes the cytoplasmic form of FBPase can lead to a rare inherited metabolic disorder known as fructose-1,6-bisphosphatase deficiency, which is characterized by impaired gluconeogenesis and hypoglycemia.

Phosphofructokinase-1 (PFK-1) is a rate-limiting enzyme in the glycolytic pathway, which is the metabolic pathway that converts glucose into pyruvate, producing ATP and NADH as energy currency for the cell. PFK-1 plays a crucial role in regulating the rate of glycolysis by catalyzing the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate, using ATP as the phosphate donor.

PFK-1 is allosterically regulated by various metabolites, such as AMP, ADP, and ATP, which act as positive or negative effectors of the enzyme's activity. For example, an increase in the intracellular concentration of AMP or ADP can activate PFK-1, promoting glycolysis and energy production, while an increase in ATP levels can inhibit the enzyme's activity, conserving glucose for use under conditions of low energy demand.

Deficiencies in PFK-1 can lead to a rare genetic disorder called Tarui's disease or glycogen storage disease type VII, which is characterized by exercise intolerance, muscle cramps, and myoglobinuria (the presence of myoglobin in the urine due to muscle damage).

The liver is a large, solid organ located in the upper right portion of the abdomen, beneath the diaphragm and above the stomach. It plays a vital role in several bodily functions, including:

1. Metabolism: The liver helps to metabolize carbohydrates, fats, and proteins from the food we eat into energy and nutrients that our bodies can use.
2. Detoxification: The liver detoxifies harmful substances in the body by breaking them down into less toxic forms or excreting them through bile.
3. Synthesis: The liver synthesizes important proteins, such as albumin and clotting factors, that are necessary for proper bodily function.
4. Storage: The liver stores glucose, vitamins, and minerals that can be released when the body needs them.
5. Bile production: The liver produces bile, a digestive juice that helps to break down fats in the small intestine.
6. Immune function: The liver plays a role in the immune system by filtering out bacteria and other harmful substances from the blood.

Overall, the liver is an essential organ that plays a critical role in maintaining overall health and well-being.

Glucose Transporter Type 5 (GLUT5) is a specific type of glucose transporter protein that facilitates the transport of fructose across biological membranes. It is a member of the solute carrier 2 family, also known as SLC2A5. GLUT5 is primarily expressed in the small intestine, where it absorbs dietary fructose from the lumen into the enterocytes, and in the kidney, where it reabsorbs fructose from the glomerular filtrate back into the bloodstream.

Unlike other GLUT family members that transport glucose using a facilitated diffusion mechanism, GLUT5 is unique because it transports fructose via a similar mechanism but with higher affinity and specificity for fructose. The gene encoding GLUT5 is located on chromosome 1 (1p34.2-p36.1) and consists of nine exons and eight introns.

Mutations in the GLUT5 gene have been associated with essential fructosuria, a rare autosomal recessive disorder characterized by an inability to metabolize fructose due to deficient intestinal absorption and renal reabsorption of fructose. However, this condition is benign and does not cause any significant health problems.

Phenylketonurias (PKU) is a genetic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, due to a deficiency of the enzyme phenylalanine hydroxylase. This results in a buildup of phenylalanine in the blood and other tissues, which can cause serious neurological problems if left untreated.

The condition is typically detected through newborn screening and can be managed through a strict diet that limits the intake of phenylalanine. If left untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and other serious health issues. In some cases, medication or a liver transplant may also be necessary to manage the condition.

Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that affects the development of multiple body systems. It is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase, which is needed for the production of cholesterol in the body.

The symptoms of SLOS can vary widely in severity, but often include developmental delays, intellectual disability, low muscle tone (hypotonia), feeding difficulties, and behavioral problems. Physical abnormalities may also be present, such as cleft palate, heart defects, extra fingers or toes (polydactyly), and genital abnormalities in males.

SLOS is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. It is typically diagnosed through genetic testing and biochemical analysis of blood or body fluids. Treatment for SLOS may include cholesterol supplementation, special education services, and management of associated medical conditions.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

Refractive errors are a group of vision conditions that include nearsightedness (myopia), farsightedness (hyperopia), astigmatism, and presbyopia. These conditions occur when the shape of the eye prevents light from focusing directly on the retina, causing blurred or distorted vision.

Myopia is a condition where distant objects appear blurry while close-up objects are clear. This occurs when the eye is too long or the cornea is too curved, causing light to focus in front of the retina instead of directly on it.

Hyperopia, on the other hand, is a condition where close-up objects appear blurry while distant objects are clear. This happens when the eye is too short or the cornea is not curved enough, causing light to focus behind the retina.

Astigmatism is a condition that causes blurred vision at all distances due to an irregularly shaped cornea or lens.

Presbyopia is a natural aging process that affects everyone as they get older, usually around the age of 40. It causes difficulty focusing on close-up objects and can be corrected with reading glasses, bifocals, or progressive lenses.

Refractive errors can be diagnosed through a comprehensive eye exam and are typically corrected with eyeglasses, contact lenses, or refractive surgery such as LASIK.

Homogentisate 1,2-dioxygenase (HGD) is an enzyme that plays a crucial role in the catabolism of tyrosine, an aromatic amino acid. This enzyme is involved in the third step of the tyrosine degradation pathway, also known as the tyrosine breakdown or catabolic pathway.

The homogentisate 1,2-dioxygenase enzyme catalyzes the conversion of homogentisic acid (HGA) into maleylacetoacetic acid. This reaction involves the cleavage of the aromatic ring of HGA and the introduction of oxygen, hence the name 'dioxygenase.' The reaction can be summarized as follows:

Homogentisate + O2 → Maleylacetoacetate

Deficiency or dysfunction in homogentisate 1,2-dioxygenase leads to a rare genetic disorder called alkaptonuria. In this condition, the body cannot break down tyrosine properly, resulting in an accumulation of HGA and its oxidation product, alkapton, which can cause damage to connective tissues and joints over time.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Homocystinuria is a genetic disorder characterized by the accumulation of homocysteine and its metabolites in the body due to a deficiency in the enzyme cystathionine beta-synthase (CBS). This enzyme is responsible for converting homocysteine to cystathionine, which is a critical step in the metabolic pathway that breaks down methionine.

As a result of this deficiency, homocysteine levels in the blood increase and can lead to various health problems, including neurological impairment, ocular abnormalities (such as ectopia lentis or dislocation of the lens), skeletal abnormalities (such as Marfan-like features), and vascular complications.

Homocystinuria can be diagnosed through newborn screening or by measuring homocysteine levels in the blood or urine. Treatment typically involves a low-methionine diet, supplementation with vitamin B6 (pyridoxine), betaine, and/or methylcobalamin (a form of vitamin B12) to help reduce homocysteine levels and prevent complications associated with the disorder.

Chronic mucocutaneous candidiasis (CMC) is a group of rare disorders characterized by persistent or recurrent Candida infections of the skin, nails, and mucous membranes. The infection can affect various sites such as the mouth, esophagus, respiratory tract, gastrointestinal tract, and genitourinary tract.

CMC is typically caused by an impaired immune response to Candida albicans, a type of fungus that commonly exists on the skin and mucous membranes. In CMC, the immune system fails to control the growth of Candida, leading to chronic or recurrent infections.

The symptoms of CMC can vary depending on the site of infection. Common manifestations include:

* Chronic or recurrent thrush (oral candidiasis)
* Esophagitis (inflammation of the esophagus)
* Chronic nail infections (onychomycosis)
* Skin lesions, such as redness, swelling, and cracks
* Genital infections, including vaginitis and balanitis (inflammation of the head of the penis)

CMC can be associated with other immune disorders, such as endocrine dysfunction, autoimmune diseases, and primary immunodeficiencies. The diagnosis of CMC is based on clinical manifestations, laboratory tests, and imaging studies. Treatment typically involves antifungal medications, such as topical or systemic azoles, echinocandins, or polyenes. In some cases, immunomodulatory therapy may be necessary to manage the underlying immune dysfunction.

Inborn errors of pyruvate metabolism refer to genetic disorders that affect the body's ability to properly metabolize pyruvate, a key intermediate in glucose metabolism. Pyruvate is produced in the cells during the breakdown of glucose for energy production. Normally, pyruvate can be converted into acetyl-CoA and enter the citric acid cycle (also known as the Krebs cycle) for further energy production. However, in individuals with inborn errors of pyruvate metabolism, this conversion process is impaired due to defects in enzymes or transport proteins involved in pyruvate metabolism.

There are several types of inborn errors of pyruvate metabolism, including:

1. Pyruvate dehydrogenase deficiency: This is a genetic disorder caused by mutations in the genes encoding components of the pyruvate dehydrogenase (PDH) complex, which catalyzes the conversion of pyruvate to acetyl-CoA. PDH deficiency can lead to lactic acidosis, neurological problems, and developmental delay.
2. Pyruvate carboxylase deficiency: This is a rare genetic disorder caused by mutations in the gene encoding pyruvate carboxylase, an enzyme that converts pyruvate to oxaloacetate, which can then be used to synthesize glucose. Pyruvate carboxylase deficiency can cause lactic acidosis, seizures, and developmental delay.
3. Mitochondrial disorders: Some mitochondrial disorders can affect pyruvate metabolism by impairing the function of the electron transport chain, which is necessary for energy production in the cells. These disorders can lead to lactic acidosis, muscle weakness, and neurological problems.
4. Other inborn errors: There are several other rare genetic disorders that can affect pyruvate metabolism, including defects in the mitochondrial pyruvate carrier protein, which transports pyruvate into the mitochondria, and deficiencies in enzymes involved in the citric acid cycle.

Treatment for these disorders typically involves managing symptoms, such as controlling lactic acidosis and providing supportive care for neurological problems. In some cases, dietary modifications or supplements may be recommended to help improve pyruvate metabolism.

Alpha-galactosidase is an enzyme that breaks down complex carbohydrates, specifically those containing alpha-galactose molecules. This enzyme is found in humans, animals, and microorganisms. In humans, a deficiency of this enzyme can lead to a genetic disorder known as Fabry disease, which is characterized by the accumulation of these complex carbohydrates in various tissues and organs, leading to progressive damage. Alpha-galactosidase is also used as a medication for the treatment of Fabry disease, where it is administered intravenously to help break down the accumulated carbohydrates and alleviate symptoms.

Fabry disease is a rare X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, which encodes the enzyme alpha-galactosidase A. This enzyme deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3 or GL-3), in various tissues and organs throughout the body. The accumulation of these lipids results in progressive damage to multiple organ systems, including the heart, kidneys, nerves, and skin.

The symptoms of Fabry disease can vary widely among affected individuals, but common manifestations include:

1. Pain: Acroparesthesias (burning or tingling sensations) in the hands and feet, episodic pain crises, chronic pain, and neuropathy.
2. Skin: Angiokeratomas (small, red, rough bumps on the skin), hypohidrosis (decreased sweating), and anhydrosis (absent sweating).
3. Gastrointestinal: Abdominal pain, diarrhea, constipation, nausea, and vomiting.
4. Cardiovascular: Left ventricular hypertrophy (enlargement of the heart muscle), cardiomyopathy, ischemic heart disease, arrhythmias, and valvular abnormalities.
5. Renal: Proteinuria (protein in the urine), hematuria (blood in the urine), chronic kidney disease, and end-stage renal disease.
6. Nervous system: Hearing loss, tinnitus, vertigo, stroke, and cognitive decline.
7. Ocular: Corneal opacities, cataracts, and retinal vessel abnormalities.
8. Pulmonary: Chronic cough, bronchial hyperresponsiveness, and restrictive lung disease.
9. Reproductive system: Erectile dysfunction in males and menstrual irregularities in females.

Fabry disease affects both males and females, but the severity of symptoms is generally more pronounced in males due to the X-linked inheritance pattern. Early diagnosis and treatment with enzyme replacement therapy (ERT) or chaperone therapy can help manage the progression of the disease and improve quality of life.

Fructose-bisphosphate aldolase is a crucial enzyme in the glycolytic pathway, which is a metabolic process that breaks down glucose to produce energy. This enzyme catalyzes the conversion of fructose-1,6-bisphosphate into two triose sugars: dihydroxyacetone phosphate and glyceraldehyde-3-phosphate.

There are two main types of aldolase isoenzymes in humans, classified as aldolase A (or muscle type) and aldolase B (or liver type). Fructose-bisphosphate aldolase refers specifically to aldolase A, which is primarily found in the muscles, brain, and red blood cells. Aldolase B, on the other hand, is predominantly found in the liver, kidney, and small intestine.

Deficiency or dysfunction of fructose-bisphosphate aldolase can lead to metabolic disorders, such as hereditary fructose intolerance, which results from a deficiency in another enzyme called aldolase B. However, it is essential to note that the term "fructose-bisphosphate aldolase" typically refers to aldolase A and not aldolase B.

Glycolysis is a fundamental metabolic pathway that occurs in the cytoplasm of cells, consisting of a series of biochemical reactions. It's the process by which a six-carbon glucose molecule is broken down into two three-carbon pyruvate molecules. This process generates a net gain of two ATP molecules (the main energy currency in cells), two NADH molecules, and two water molecules.

Glycolysis can be divided into two stages: the preparatory phase (or 'energy investment' phase) and the payoff phase (or 'energy generation' phase). During the preparatory phase, glucose is phosphorylated twice to form glucose-6-phosphate and then converted to fructose-1,6-bisphosphate. These reactions consume two ATP molecules but set up the subsequent breakdown of fructose-1,6-bisphosphate into triose phosphates in the payoff phase. In this second stage, each triose phosphate is further oxidized and degraded to produce one pyruvate molecule, one NADH molecule, and one ATP molecule through substrate-level phosphorylation.

Glycolysis does not require oxygen to proceed; thus, it can occur under both aerobic (with oxygen) and anaerobic (without oxygen) conditions. In the absence of oxygen, the pyruvate produced during glycolysis is further metabolized through fermentation pathways such as lactic acid fermentation or alcohol fermentation to regenerate NAD+, which is necessary for glycolysis to continue.

In summary, glycolysis is a crucial process in cellular energy metabolism, allowing cells to convert glucose into ATP and other essential molecules while also serving as a starting point for various other biochemical pathways.

The Australian Capital Territory (ACT) is a federal territory of Australia that serves as the country's capital and is home to the city of Canberra. It is not a state, but rather a separate territorial jurisdiction that is self-governing, with its own legislative assembly responsible for local governance.

The ACT was established in 1911 as the site for Australia's capital city, following a compromise between the two largest cities in the country at the time, Sydney and Melbourne, which both sought to be named the national capital. The territory covers an area of approximately 2,358 square kilometers (910 square miles) and has a population of around 430,000 people.

The ACT is home to many important government buildings and institutions, including Parliament House, the High Court of Australia, and the Australian War Memorial. It also boasts a diverse range of natural attractions, such as the Namadgi National Park and the Tidbinbilla Nature Reserve, which offer opportunities for hiking, camping, and wildlife viewing.

In medical terms, the ACT has its own healthcare system and infrastructure, with several hospitals, clinics, and medical centers located throughout the territory. The Australian Government provides funding for public health services in the ACT, while private health insurance is also available to residents. The territory's main hospital, Canberra Hospital, offers a range of specialist medical services, including emergency care, cancer treatment, and mental health services.

Ornithine Carbamoyltransferase (OCT) Deficiency Disease, also known as Ornithine Transcarbamylase Deficiency, is a rare inherited urea cycle disorder. It is caused by a deficiency of the enzyme ornithine carbamoyltransferase, which is responsible for one of the steps in the urea cycle that helps to rid the body of excess nitrogen (in the form of ammonia).

When OCT function is impaired, nitrogen accumulates and forms ammonia, leading to hyperammonemia (elevated blood ammonia levels), which can cause neurological symptoms such as lethargy, vomiting, irritability, and in severe cases, coma or death.

Symptoms of OCT deficiency can range from mild to severe and may include developmental delay, seizures, behavioral changes, and movement disorders. The diagnosis is typically made through newborn screening tests, enzyme assays, and genetic testing. Treatment usually involves a combination of dietary restrictions, medications that help remove nitrogen from the body, and in some cases, liver transplantation.

Argininosuccinic acid is a chemical compound that is an intermediate in the metabolic pathway for the synthesis of arginine, an essential amino acid. This process occurs in the urea cycle, which is responsible for removing excess nitrogen from the body in the form of urea.

In the urea cycle, citrulline reacts with aspartate to form argininosuccinic acid, which is then converted into arginine and fumarate by the enzyme argininosuccinate lyase. Arginine is a semi-essential amino acid that plays important roles in various physiological processes, including protein synthesis, nitric oxide production, and hormone secretion.

Argininosuccinic aciduria is a rare inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate lyase. This results in an accumulation of argininosuccinic acid in the blood and urine, leading to hyperammonemia (elevated levels of ammonia in the blood), neurological symptoms, and developmental delay. Treatment typically involves a low-protein diet, supplementation with arginine and citrulline, and nitrogen scavenging medications to reduce ammonia levels.

Metabolism is the complex network of chemical reactions that occur within our bodies to maintain life. It involves two main types of processes: catabolism, which is the breaking down of molecules to release energy, and anabolism, which is the building up of molecules using energy. These reactions are necessary for the body to grow, reproduce, respond to environmental changes, and repair itself. Metabolism is a continuous process that occurs at the cellular level and is regulated by enzymes, hormones, and other signaling molecules. It is influenced by various factors such as age, genetics, diet, physical activity, and overall health status.

Isovaleryl-CoA Dehydrogenase (IVD) is an enzyme that plays a crucial role in the catabolism of leucine, an essential amino acid. This enzyme is located in the mitochondrial matrix and is responsible for catalyzing the third step in the degradation pathway of leucine.

Specifically, Isovaleryl-CoA Dehydrogenase facilitates the conversion of isovaleryl-CoA to 3-methylcrotonyl-CoA through the removal of two hydrogen atoms from the substrate. This reaction requires the coenzyme flavin adenine dinucleotide (FAD) as an electron acceptor, which gets reduced to FADH2 during the process.

Deficiency in Isovaleryl-CoA Dehydrogenase can lead to a rare genetic disorder known as isovaleric acidemia, characterized by the accumulation of isovaleryl-CoA and its metabolic byproducts, including isovaleric acid, 3-hydroxyisovaleric acid, and methylcrotonylglycine. These metabolites can cause various symptoms such as vomiting, dehydration, metabolic acidosis, seizures, developmental delay, and even coma or death in severe cases.

Metabolic diseases are a group of disorders caused by abnormal chemical reactions in your body's cells. These reactions are part of a complex process called metabolism, where your body converts the food you eat into energy.

There are several types of metabolic diseases, but they most commonly result from:

1. Your body not producing enough of certain enzymes that are needed to convert food into energy.
2. Your body producing too much of certain substances or toxins, often due to a genetic disorder.

Examples of metabolic diseases include phenylketonuria (PKU), diabetes, and gout. PKU is a rare condition where the body cannot break down an amino acid called phenylalanine, which can lead to serious health problems if left untreated. Diabetes is a common disorder that occurs when your body doesn't produce enough insulin or can't properly use the insulin it produces, leading to high blood sugar levels. Gout is a type of arthritis that results from too much uric acid in the body, which can form crystals in the joints and cause pain and inflammation.

Metabolic diseases can be inherited or acquired through environmental factors such as diet or lifestyle choices. Many metabolic diseases can be managed with proper medical care, including medication, dietary changes, and lifestyle modifications.

Hydroxocobalamin is a form of vitamin B12 that is used in medical treatments. It is a synthetic version of the naturally occurring compound, and it is often used to treat vitamin B12 deficiencies. Hydroxocobalamin is also used to treat poisoning from cyanide, as it can bind with the cyanide to form a non-toxic compound that can be excreted from the body.

In medical terms, hydroxocobalamin is defined as: "A bright red crystalline compound, C21H30CoN4O7·2H2O, used in the treatment of vitamin B12 deficiency and as an antidote for cyanide poisoning. It is converted in the body to active coenzyme forms."

It's important to note that hydroxocobalamin should only be used under the supervision of a medical professional, as improper use can lead to serious side effects or harm.

Hypophosphatasia is a rare inherited metabolic disorder characterized by defective bone mineralization due to deficiency of alkaline phosphatase, an enzyme that is crucial for the formation of strong and healthy bones. This results in skeletal abnormalities, including softening and weakening of the bones (rickets in children and osteomalacia in adults), premature loss of teeth, and an increased risk of fractures.

The disorder can vary widely in severity, from mild cases with few symptoms to severe forms that can lead to disability or even be life-threatening in infancy. Hypophosphatasia is caused by mutations in the ALPL gene, which provides instructions for making the tissue non-specific alkaline phosphatase (TNSALP) enzyme. Inheritance is autosomal recessive, meaning an individual must inherit two copies of the mutated gene (one from each parent) to have the condition.

Methylmalonic acid (MMA) is an organic compound that is produced in the human body during the metabolism of certain amino acids, including methionine and threonine. It is a type of fatty acid that is intermediate in the breakdown of these amino acids in the liver and other tissues.

Under normal circumstances, MMA is quickly converted to succinic acid, which is then used in the Krebs cycle to generate energy in the form of ATP. However, when there are deficiencies or mutations in enzymes involved in this metabolic pathway, such as methylmalonyl-CoA mutase, MMA can accumulate in the body and cause methylmalonic acidemia, a rare genetic disorder that affects approximately 1 in every 50,000 to 100,000 individuals worldwide.

Elevated levels of MMA in the blood or urine can be indicative of various metabolic disorders, including methylmalonic acidemia, vitamin B12 deficiency, and renal insufficiency. Therefore, measuring MMA levels is often used as a diagnostic tool to help identify and manage these conditions.

Diagnostic errors refer to inaccurate or delayed diagnoses of a patient's medical condition, which can lead to improper or unnecessary treatment and potentially serious harm to the patient. These errors can occur due to various factors such as lack of clinical knowledge, failure to consider all possible diagnoses, inadequate communication between healthcare providers and patients, and problems with testing or interpretation of test results. Diagnostic errors are a significant cause of preventable harm in medical care and have been identified as a priority area for quality improvement efforts.

Carnitine is a naturally occurring substance in the body that plays a crucial role in energy production. It transports long-chain fatty acids into the mitochondria, where they can be broken down to produce energy. Carnitine is also available as a dietary supplement and is often used to treat or prevent carnitine deficiency.

The medical definition of Carnitine is:

"A quaternary ammonium compound that occurs naturally in animal tissues, especially in muscle, heart, brain, and liver. It is essential for the transport of long-chain fatty acids into the mitochondria, where they can be oxidized to produce energy. Carnitine also functions as an antioxidant and has been studied as a potential treatment for various conditions, including heart disease, diabetes, and kidney disease."

Carnitine is also known as L-carnitine or levocarnitine. It can be found in foods such as red meat, dairy products, fish, poultry, and tempeh. In the body, carnitine is synthesized from the amino acids lysine and methionine with the help of vitamin C and iron. Some people may have a deficiency in carnitine due to genetic factors, malnutrition, or certain medical conditions, such as kidney disease or liver disease. In these cases, supplementation may be necessary to prevent or treat symptoms of carnitine deficiency.

Metabolic brain diseases refer to a group of conditions that are caused by disruptions in the body's metabolic processes, which affect the brain. These disorders can be inherited or acquired and can result from problems with the way the body produces, breaks down, or uses energy and nutrients.

Examples of metabolic brain diseases include:

1. Mitochondrial encephalomyopathies: These are a group of genetic disorders that affect the mitochondria, which are the energy-producing structures in cells. When the mitochondria don't function properly, it can lead to muscle weakness, neurological problems, and developmental delays.
2. Leukodystrophies: These are a group of genetic disorders that affect the white matter of the brain, which is made up of nerve fibers covered in myelin, a fatty substance that insulates the fibers and helps them transmit signals. When the myelin breaks down or is not produced properly, it can lead to cognitive decline, motor problems, and other neurological symptoms.
3. Lysosomal storage disorders: These are genetic disorders that affect the lysosomes, which are structures in cells that break down waste products and recycle cellular materials. When the lysosomes don't function properly, it can lead to the accumulation of waste products in cells, including brain cells, causing damage and neurological symptoms.
4. Maple syrup urine disease: This is a genetic disorder that affects the way the body breaks down certain amino acids, leading to a buildup of toxic levels of these substances in the blood and urine. If left untreated, it can cause brain damage, developmental delays, and other neurological problems.
5. Homocystinuria: This is a genetic disorder that affects the way the body processes an amino acid called methionine, leading to a buildup of homocysteine in the blood. High levels of homocysteine can cause damage to the blood vessels and lead to neurological problems, including seizures, developmental delays, and cognitive decline.

Treatment for metabolic brain diseases may involve dietary changes, supplements, medications, or other therapies aimed at managing symptoms and preventing further damage to the brain. In some cases, a stem cell transplant may be recommended as a treatment option.

Phosphofructokinase-2 (PFK-2) is an enzyme that plays a crucial role in regulating the rate of glycolysis, which is the metabolic pathway responsible for the conversion of glucose into energy. PFK-2 catalyzes the phosphorylation of fructose-6-phosphate to form fructose-1,6-bisphosphate and subsequently fructose-2,6-bisphosphate (F-2,6-BP). F-2,6-BP is a potent allosteric activator of another enzyme called phosphofructokinase-1 (PFK-1), which is the rate-limiting enzyme in glycolysis.

PFK-2 exists as a complex with another enzyme, fructose-2,6-bisphosphatase (FBPase-2), and together they form a bifunctional enzyme called PFK-2/FBPase-2. This enzyme can reversibly convert F-6-P to F-2,6-BP and vice versa depending on the cellular energy status. When cells have high energy levels, FBPase-2 is activated, which leads to a decrease in F-2,6-BP levels and an inhibition of glycolysis. Conversely, when cells require more energy, PFK-2 is activated, leading to an increase in F-2,6-BP levels and an activation of glycolysis.

Regulation of PFK-2 activity occurs through various mechanisms, including allosteric regulation by metabolites such as AMP, citrate, and phosphate, as well as covalent modification by protein kinases and phosphatases. Dysregulation of PFK-2 has been implicated in several diseases, including diabetes, cancer, and neurological disorders.

I am sorry for any confusion, but "Pentanoic Acids" is not a recognized medical term or concept. Pentanoic acid, also known as valeric acid, is an organic compound with the formula CH3CH2CH2CH2CO2H. It is a fatty acid with five carbon atoms, and it may have some uses in industry, but it does not have specific relevance to medical definition or healthcare.

Dietary carbohydrates refer to the organic compounds in food that are primarily composed of carbon, hydrogen, and oxygen atoms, with a general formula of Cm(H2O)n. They are one of the three main macronutrients, along with proteins and fats, that provide energy to the body.

Carbohydrates can be classified into two main categories: simple carbohydrates (also known as simple sugars) and complex carbohydrates (also known as polysaccharides).

Simple carbohydrates are made up of one or two sugar molecules, such as glucose, fructose, and lactose. They are quickly absorbed by the body and provide a rapid source of energy. Simple carbohydrates are found in foods such as fruits, vegetables, dairy products, and sweeteners like table sugar, honey, and maple syrup.

Complex carbohydrates, on the other hand, are made up of long chains of sugar molecules that take longer to break down and absorb. They provide a more sustained source of energy and are found in foods such as whole grains, legumes, starchy vegetables, and nuts.

It is recommended that adults consume between 45-65% of their daily caloric intake from carbohydrates, with a focus on complex carbohydrates and limiting added sugars.

Methylmalonyl-CoA mutase is a mitochondrial enzyme that plays a crucial role in the metabolism of certain amino acids and fatty acids. Specifically, it catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, which is an important step in the catabolic pathways of valine, isoleucine, threonine, methionine, odd-chain fatty acids, and cholesterol.

The enzyme requires a cofactor called adenosylcobalamin (vitamin B12) for its activity. In the absence of this cofactor or due to mutations in the gene encoding the enzyme, methylmalonyl-CoA mutase deficiency can occur, leading to the accumulation of methylmalonic acid and other toxic metabolites, which can cause a range of symptoms including vomiting, dehydration, lethargy, hypotonia, developmental delay, and metabolic acidosis. This condition is typically inherited in an autosomal recessive manner and can be diagnosed through biochemical tests and genetic analysis.

Oxidoreductases acting on CH-CH group donors are a class of enzymes within the larger group of oxidoreductases, which are responsible for catalyzing oxidation-reduction reactions. Specifically, this subclass of enzymes acts upon donors containing a carbon-carbon (CH-CH) bond, where one atom or group of atoms is oxidized and another is reduced during the reaction process. These enzymes play crucial roles in various metabolic pathways, including the breakdown and synthesis of carbohydrates, lipids, and amino acids.

The reactions catalyzed by these enzymes involve the transfer of electrons and hydrogen atoms between the donor and an acceptor molecule. This process often results in the formation or cleavage of carbon-carbon bonds, making them essential for numerous biological processes. The systematic name for this class of enzymes is typically structured as "donor:acceptor oxidoreductase," where donor and acceptor represent the molecules involved in the electron transfer process.

Examples of enzymes that fall under this category include:

1. Aldehyde dehydrogenases (EC 1.2.1.3): These enzymes catalyze the oxidation of aldehydes to carboxylic acids, using NAD+ as an electron acceptor.
2. Dihydrodiol dehydrogenase (EC 1.3.1.14): This enzyme is responsible for the oxidation of dihydrodiols to catechols in the biodegradation of aromatic compounds.
3. Succinate dehydrogenase (EC 1.3.5.1): A key enzyme in the citric acid cycle, succinate dehydrogenase catalyzes the oxidation of succinate to fumarate and reduces FAD to FADH2.
4. Xylose reductase (EC 1.1.1.307): This enzyme is involved in the metabolism of pentoses, where it reduces xylose to xylitol using NADPH as a cofactor.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

In the context of medicine and pharmacology, "kinetics" refers to the study of how a drug moves throughout the body, including its absorption, distribution, metabolism, and excretion (often abbreviated as ADME). This field is called "pharmacokinetics."

1. Absorption: This is the process of a drug moving from its site of administration into the bloodstream. Factors such as the route of administration (e.g., oral, intravenous, etc.), formulation, and individual physiological differences can affect absorption.

2. Distribution: Once a drug is in the bloodstream, it gets distributed throughout the body to various tissues and organs. This process is influenced by factors like blood flow, protein binding, and lipid solubility of the drug.

3. Metabolism: Drugs are often chemically modified in the body, typically in the liver, through processes known as metabolism. These changes can lead to the formation of active or inactive metabolites, which may then be further distributed, excreted, or undergo additional metabolic transformations.

4. Excretion: This is the process by which drugs and their metabolites are eliminated from the body, primarily through the kidneys (urine) and the liver (bile).

Understanding the kinetics of a drug is crucial for determining its optimal dosing regimen, potential interactions with other medications or foods, and any necessary adjustments for special populations like pediatric or geriatric patients, or those with impaired renal or hepatic function.

Inborn errors of metal metabolism refer to genetic disorders that affect the way the body processes and handles certain metallic elements. These disorders can result in an accumulation or deficiency of specific metals, leading to various clinical manifestations. Examples of such conditions include:

1. Wilson's disease: An autosomal recessive disorder caused by a mutation in the ATP7B gene, which results in abnormal copper metabolism and accumulation in various organs, particularly the liver and brain.
2. Menkes disease: An X-linked recessive disorder caused by a mutation in the ATP7A gene, leading to impaired copper transport and deficiency, affecting the brain, bones, and connective tissue.
3. Hemochromatosis: An autosomal recessive disorder characterized by excessive iron absorption and deposition in various organs, causing damage to the liver, heart, and pancreas.
4. Acrodermatitis enteropathica: A rare autosomal recessive disorder caused by a mutation in the SLC39A4 gene, resulting in zinc deficiency and affecting the skin, gastrointestinal system, and immune function.
5. Disturbances in manganese metabolism: Rare genetic disorders that can lead to either manganese accumulation or deficiency, causing neurological symptoms.

These conditions often require specialized medical management, including dietary modifications, chelation therapy, and/or supplementation to maintain appropriate metal homeostasis and prevent organ damage.

Sweetening agents are substances that are added to foods or drinks to give them a sweet taste. They can be natural, like sugar (sucrose), honey, and maple syrup, or artificial, like saccharin, aspartame, and sucralose. Artificial sweeteners are often used by people who want to reduce their calorie intake or control their blood sugar levels. However, it's important to note that some sweetening agents may have potential health concerns when consumed in large amounts.

Glutarates are compounds that contain a glutaric acid group. Glutaric acid is a carboxylic acid with a five-carbon chain and two carboxyl groups at the 1st and 5th carbon positions. Glutarates can be found in various substances, including certain foods and medications.

In a medical context, glutarates are sometimes used as ingredients in pharmaceutical products. For example, sodium phenylbutyrate, which is a salt of phenylbutyric acid and butyric acid, contains a glutaric acid group and is used as a medication to treat urea cycle disorders.

Glutarates can also be found in some metabolic pathways in the body, where they play a role in energy production and other biochemical processes. However, abnormal accumulation of glutaric acid or its derivatives can lead to certain medical conditions, such as glutaric acidemia type I, which is an inherited disorder of metabolism that can cause neurological symptoms and other health problems.

Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder characterized by an inability to break down certain amino acids (leucine, isoleucine, and valine) due to deficiency of the enzyme complex branched-chain keto acid dehydrogenase. This results in their accumulation in body fluids, including urine, which gives it a characteristic sweet smell, reminiscent of maple syrup.

The disease can lead to serious neurological complications if left untreated, including seizures, vomiting, mental retardation, and even death. There are different forms of MSUD, ranging from severe (classic) to milder (intermittent or variant). Treatment typically involves a strict lifelong diet low in these amino acids, regular monitoring of blood and urine, and sometimes supplementation with enzymes or medications.

Amidinotransferases are a group of enzymes that play a role in the metabolism of amino acids and other biologically active compounds. These enzymes catalyze the transfer of an amidino group (-NH-C=NH) from one molecule to another, typically from an amino acid or related compound donor to an acceptor molecule.

The amidinotransferases are classified as a subgroup of the larger family of enzymes known as transferases, which catalyze the transfer of various functional groups between molecules. Within this family, the amidinotransferases are further divided into several subfamilies based on their specific functions and the types of donor and acceptor molecules they act upon.

One example of an amidinotransferase is arginine:glycine amidinotransferase (AGAT), which plays a role in the biosynthesis of creatine, a compound that is important for energy metabolism in muscles and other tissues. AGAT transfers an amidino group from arginine to glycine, forming guanidinoacetate and ornithine as products.

Abnormalities in the activity of amidinotransferases have been implicated in various diseases, including neurological disorders and certain genetic conditions. For example, mutations in the gene encoding AGAT have been associated with a rare inherited disorder called cerebral creatine deficiency syndrome type 1 (CCDS1), which is characterized by developmental delay, intellectual disability, and other neurological symptoms.

Metabolic networks and pathways refer to the complex interconnected series of biochemical reactions that occur within cells to maintain life. These reactions are catalyzed by enzymes and are responsible for the conversion of nutrients into energy, as well as the synthesis and breakdown of various molecules required for cellular function.

A metabolic pathway is a series of chemical reactions that occur in a specific order, with each reaction being catalyzed by a different enzyme. These pathways are often interconnected, forming a larger network of interactions known as a metabolic network.

Metabolic networks can be represented as complex diagrams or models, which show the relationships between different pathways and the flow of matter and energy through the system. These networks can help researchers to understand how cells regulate their metabolism in response to changes in their environment, and how disruptions to these networks can lead to disease.

Some common examples of metabolic pathways include glycolysis, the citric acid cycle (also known as the Krebs cycle), and the pentose phosphate pathway. Each of these pathways plays a critical role in maintaining cellular homeostasis and providing energy for cellular functions.

Sucrose is a type of simple sugar, also known as a carbohydrate. It is a disaccharide, which means that it is made up of two monosaccharides: glucose and fructose. Sucrose occurs naturally in many fruits and vegetables and is often extracted and refined for use as a sweetener in food and beverages.

The chemical formula for sucrose is C12H22O11, and it has a molecular weight of 342.3 g/mol. In its pure form, sucrose is a white, odorless, crystalline solid that is highly soluble in water. It is commonly used as a reference compound for determining the sweetness of other substances, with a standard sucrose solution having a sweetness value of 1.0.

Sucrose is absorbed by the body through the small intestine and metabolized into glucose and fructose, which are then used for energy or stored as glycogen in the liver and muscles. While moderate consumption of sucrose is generally considered safe, excessive intake can contribute to weight gain, tooth decay, and other health problems.

Lactates, also known as lactic acid, are compounds that are produced by muscles during intense exercise or other conditions of low oxygen supply. They are formed from the breakdown of glucose in the absence of adequate oxygen to complete the full process of cellular respiration. This results in the production of lactate and a hydrogen ion, which can lead to a decrease in pH and muscle fatigue.

In a medical context, lactates may be measured in the blood as an indicator of tissue oxygenation and metabolic status. Elevated levels of lactate in the blood, known as lactic acidosis, can indicate poor tissue perfusion or hypoxia, and may be seen in conditions such as sepsis, cardiac arrest, and severe shock. It is important to note that lactates are not the primary cause of acidemia (low pH) in lactic acidosis, but rather a marker of the underlying process.

Erythropoietic Porphyria (EP) is a rare inherited disorder of the heme biosynthesis pathway, specifically caused by a deficiency of the enzyme uroporphyrinogen III synthase. This results in the accumulation of porphyrin precursors, particularly uroporphyrin I and coproporphyrin I, in erythrocytes (red blood cells), bone marrow, and other tissues. The accumulation of these porphyrins leads to photosensitivity, hemolysis, and iron overload.

The symptoms of EP typically appear in childhood or early adulthood and include severe skin fragility and blistering, particularly on sun-exposed areas, which can result in scarring, disfigurement, and increased susceptibility to infection. Other features may include anemia due to hemolysis, iron overload, and splenomegaly (enlarged spleen).

The diagnosis of EP is based on clinical symptoms, laboratory tests measuring porphyrin levels in blood and urine, and genetic testing to confirm the presence of pathogenic variants in the UROS gene. Treatment for EP includes avoidance of sunlight exposure, use of sun-protective measures, and management of anemia with blood transfusions or erythropoietin injections. In some cases, bone marrow transplantation may be considered as a curative treatment option.

Glutaryl-CoA Dehydrogenase (GCDH) is an enzyme that plays a crucial role in the catabolism of the amino acids lysine and hydroxylysine. It is located in the inner mitochondrial membrane and functions as a homotetramer, with each subunit containing one molecule of FAD as a cofactor.

GCDH catalyzes the oxidative decarboxylation of glutaryl-CoA to form succinyl-CoA, which is then further metabolized in the citric acid cycle. This reaction also involves the reduction of FAD to FADH2, which can subsequently be used in the electron transport chain to generate ATP.

Deficiency in GCDH function can lead to a rare inherited disorder called glutaric acidemia type I (GA-I), which is characterized by an accumulation of glutaryl-CoA and its metabolites, including glutaric acid and 3-hydroxyglutaric acid. These metabolites can cause neurological damage and intellectual disability if left untreated.

Hommes, F. A. (1993). "Inborn errors of fructose metabolism". Am J Clin Nutr. 58 (5): 788S-795S. doi:10.1093/ajcn/58.5.788S. ... D-Glyceric acidemia (a.k.a. D-Glyceric aciduria) is an inherited disease, in the category of inborn errors of metabolism. It is ... as well as the breakdown of fructose. A deficiency in glycerate kinase activity leads to the accumulation of D-glyceric acid (a ...
ISBN 978-3-540-28783-4. Tran C (April 2017). "Inborn Errors of Fructose Metabolism. What Can We Learn from Them?". Nutrients. 9 ... The amount of fructose routinely lost in urine is quite small. Other errors in fructose metabolism have greater clinical ... Steinmann B, Santer R (2012). "Disorders of Fructose Metabolism". In Saudubray J, van den Berghe G, Walter JH (eds.). Inborn ... Hereditary fructose intolerance, or the presence of fructose in the blood (fructosemia), is caused by a deficiency of aldolase ...
... (HFI) is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B ... "Disorders of Fructose Metabolism". In Saudubray, Jean-Marie; van den Berghe, Georges; Walter, John H. (eds.). Inborn Metabolic ... If fructose is ingested, the enzymatic block at aldolase B causes an accumulation of fructose-1-phosphate which, over time, ... After ingestion, fructose is converted to fructose-1-phosphate in the liver by fructokinase. Deficiencies of fructokinase cause ...
... and Addison's disease Fibromyalgia Gulf War syndrome Heart failure HIV Inborn errors of metabolism such as fructose ... Gibson PR, Newnham E, Barrett JS, Shepherd SJ, Muir JG (February 2007). "Review article: fructose malabsorption and the bigger ...
... fructose metabolism, inborn errors MeSH C18.452.648.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C18.452.648.202. ... amino acid metabolism, inborn errors MeSH C18.452.648.066.102 - albinism MeSH C18.452.648.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C18.452.648.798.368 - gout MeSH C18.452.648.798.368.410 - arthritis, gouty ... pyruvate metabolism, inborn errors MeSH C18.452.648.202.810.444 - Leigh disease MeSH C18.452.648.202.810.666 - pyruvate ...
... fructose metabolism, inborn errors MeSH C16.320.565.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C16.320.565.202. ... amino acid metabolism, inborn errors MeSH C16.320.565.066.102 - albinism MeSH C16.320.565.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C16.320.565.798.368 - gout MeSH C16.320.565.798.368.410 - arthritis, gouty ... pyruvate metabolism, inborn errors MeSH C16.320.565.202.810.444 - Leigh disease MeSH C16.320.565.202.810.666 - pyruvate ...
Fructose malabsorption is a digestive disorder in which absorption of fructose is impaired by deficient fructose carriers in ... Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of ... For further information on inborn errors of glucose metabolism and inborn errors of glycogen metabolism see below. Lactose is a ... The failure to effectively use these molecules accounts for the majority of the inborn errors of human carbohydrates metabolism ...
Inborn errors of carbohydrate metabolism). ... If fructose or glycerol are given, there will be a buildup of ... They should avoid fructose containing foods (as well as sucrose which breaks down to fructose). As with all single-gene ... In fructose bisphosphatase deficiency, there is not enough fructose bisphosphatase for gluconeogenesis to occur correctly. ... Fructose Gluconeogenesis Metabolism diMauro, Salvatore; Darryl C. De Vivo (October 1998). "Diseases of Carbohydrate, Fatty Acid ...
Lactose intolerance Fructose malabsorption Galactosemia Glycogen storage disease Inborn errors of carbohydrate metabolism ... Enzymes located in certain tissues can add a phosphate group to fructose. This phosphorylation creates fructose-6-phosphate, an ... Biology portal Carbohydrate+metabolism at the U.S. National Library of Medicine Medical Subject Headings (MeSH) BBC - GCSE ... Carbohydrate metabolism is the whole of the biochemical processes responsible for the metabolic formation, breakdown, and ...
Inborn errors of carbohydrate metabolism). ... Glucose enhances absorption of fructose, so fructose from foods ... Simultaneous ingestion of fructose and sorbitol seems to increase malabsorption of fructose. Fructose that has not been ... However, fructose malabsorbers do not need to avoid gluten, as those with celiac disease must.[citation needed] Many fructose ... Fructose malabsorption is not to be confused with hereditary fructose intolerance, a potentially fatal condition in which the ...
For more online resources and references, see inborn error of metabolism. Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S ... breaks down sucrose into glucose and fructose) Trehalase (breaks down trehalose into 2 glucoses) For a thorough scientific ...
... lack of two important enzymes in fructose metabolism results in the development of two inborn errors in carbohydrate metabolism ... The first step in the metabolism of fructose is the phosphorylation of fructose to fructose 1-phosphate by fructokinase (Km = ... Steinmann B, Santer R (2012). "Disorders of Fructose Metabolism". In Saudubray J, van den Berghe G, Walter JH (eds.). Inborn ... As a result, fructose is neither trapped within the cell nor directed toward its metabolism. Free fructose concentrations in ...
Inborn errors of metabolism are not typically associated with malformation and subsequent cases have lacked such physical ... In particular increased fructose-1,6-bisphosphate accumulation can have inhibitory effects on glucose-6-phosphate dehydrogenase ... Inborn errors of carbohydrate metabolism, Autosomal recessive disorders, Red blood cell disorders, Rare diseases). ... this may be generally associated with the physiological difficulties implicit in errors of energy metabolism. In particular ...
... in various inborn errors of metabolism, and intentionally induced via a ketogenic diet, and in ketoacidosis (usually due to ... The best known ketose is fructose; it mostly exists as a cyclic hemiketal, which masks the ketone functional group. Fatty acid ...
Inborn errors of purine-pyrimidine metabolism). ... by a product of fructose metabolism, in purine metabolism. This ... Mayes PA (1993). "Intermediary metabolism of fructose". Am. J. Clin. Nutr. 58 (5 Suppl): 754S-765S. doi:10.1093/ajcn/58.5.754S ... Mayes PA (November 1993). "Intermediary metabolism of fructose". Am. J. Clin. Nutr. 58 (5 Suppl): 754S-765S. doi:10.1093/ajcn/ ... "Lack of association between dietary fructose and hyperuricemia risk in adults". Nutrition & Metabolism. 7 (16): 16. doi:10.1186 ...
... inborn error of metabolism, severe infections, reactive hypoglycemia and a number of drugs including alcohol. Low blood sugar ... PFK-2 increases production of fructose 2,6-bisphosphate. Fructose 2,6-bisphosphate allosterically activates PFK-1, which favors ... "Carbohydrate and insulin metabolism in chronic kidney disease". UpToDate, Inc. D'Eon TM, Pierce KA, Roix JJ, Tyler A, Chen H, ... It regulates the metabolism of carbohydrates, fats and protein by promoting the absorption of glucose from the blood into liver ...
... disorders of metabolism 277.81 Primary carnitine deficiency 277.82 Carnitine deficiency due to inborn errors of metabolism ... 271.0 Glycogenosis Von Gierke's disease McArdle's disease Pompe's disease 271.1 Galactosemia 271.2 Hereditary fructose ... transport and metabolism 271.9 Unspecified disorder of carbohydrate transport and metabolism 272 Disorders of lipoid metabolism ... mineral metabolism 275.0 Disorders of iron metabolism Aceruloplasminemia Hemochromatosis 275.1 Disorders of copper metabolism ...
Inborn error of metabolism Lactic acidosis is commonly found in people who are unwell, such as those with severe heart and/or ... or nongenetic deficiencies of biotin Diabetes mellitus and deafness Fructose 1,6-bisphosphatase deficiency Glucose-6- ... Elevations in lactate are either a consequence of increased production or of decreased metabolism. With regards to metabolism, ... It is a form of metabolic acidosis, in which excessive acid accumulates due to a problem with the body's oxidative metabolism. ...
Metabolic food reactions are due to inborn or acquired errors of metabolism of nutrients, such as in lactase deficiency, ... It may be a result of an abnormality in the body's ability to absorb nutrients, as occurs in fructose malabsorption. Food ... Another carbohydrate intolerance caused by enzyme deficiency is hereditary fructose intolerance. Celiac disease, an autoimmune ... Diagnosis of food intolerance can include hydrogen breath testing for lactose intolerance and fructose malabsorption, ...
Inborn errors of carbohydrate metabolism, Membrane transport protein disorders, Rare diseases). ... Fructose malabsorption Lactose intolerance Wright EM, Turk E, Martin MG (2002). "Molecular basis for glucose-galactose ... Sucrose is broken down into glucose and another simple sugar called fructose, and lactose is broken down into glucose and ... However, they are able to digest fructose-based formulas that do not contain glucose or galactose. Some affected children are ...
People with certain rare inborn errors of metabolism have a propensity to accumulate crystal-forming substances in their urine ... Knight J, Assimos DG, Easter L, Holmes RP (November 2010). "Metabolism of fructose to oxalate and glycolate". Hormone and ... An inborn error of renal tubular transport". The New England Journal of Medicine. 278 (26): 1407-13. doi:10.1056/ ... High dietary intake of animal protein, sodium, sugars including honey, refined sugars, fructose and high fructose corn syrup, ...
"Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital" (PDF). Journal of Inborn Errors ... However, unlike GSD-I, gluconeogenesis is functional, so simple sugars (sucrose, fructose, and lactose) are not prohibited. A ... However, not every inborn error of carbohydrate metabolism has been assigned a GSD number, even if it is known to affect the ... See inborn errors of carbohydrate metabolism for a full list of inherited diseases that affect glycogen synthesis, glycogen ...
... glucose metabolism and AMPK. Sugars such as glucose and fructose can react with certain amino acids such as lysine and arginine ... Damage and error accumulation in genetic material is always a problem for systems regardless of the age. The number of stem ... including interventions that alter and target the inborn aging process. Biological aging or the LHG comes with a great cost ... Reis, Caio E. G.; Dórea, José G.; da Costa, Teresa H. M. (1 July 2019). "Effects of coffee consumption on glucose metabolism: A ...
... "a public inborn error of metabolism", as it affects all humans. There exists a wide discrepancy between the amounts of ascorbic ... that it stopped producing GULO may have been of benefit to early primates by increasing uric acid levels and enhancing fructose ...
Inborn errors of carbohydrate metabolism, Hepatology, Gastroenterology). ... Acute Hypoglycemia Fructose 1-Phosphate Aldolase Deficiency (Hereditary fructose intolerance). There are two types of glycogen ... Oral loading of glucose, galactose, or fructose results in a marked rise in blood lactate levels. Liver biopsy for microscopic ... However, urine-reducing substance findings are positive (fructosuria) in those with fructose 1-phosphate aldolase deficiency ( ...
Inborn errors of carbohydrate metabolism, Sensitivities). ... which breaks the bond between the glucose and fructose ... Fructose malabsorption Digestive system diseases Lactose intolerance Baudon JJ, Veinberg F, Thioulouse E, Morgant G, Aymard P, ... is a disaccharide and is a two-sugar chain composed of glucose and fructose which are bonded together. A more familiar name is ... an enzyme needed for proper metabolism of sucrose (sugar) and starch (e.g., grains), is not produced or the enzyme produced is ...
Measuring versus elapsed time the net rate of heat flow Inborn errors of metabolism - Class of genetic diseases Iron-sulfur ... Once inside, the major route of breakdown is glycolysis, where sugars such as glucose and fructose are converted into pyruvate ... Metabolism Look up metabolism in Wiktionary, the free dictionary. Wikimedia Commons has media related to Metabolism. General ... The metabolism of cancer cells is also different from the metabolism of normal cells, and these differences can be used to find ...
Jiménez RT, Puig JG (2012). "Purine Metabolism in the Pathogenesis of Hyperuricemia and Inborn Errors of Purine Metabolism ... Glucose 6-phosphate is converted to fructose 6-phosphate (F6P) and glyceraldehyde 3-phosphate (G3P) during glycolysis. ... new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy". American Journal ... doi:10.1016/B978-0-7506-9852-8.00015-1. ISBN 978-0-7506-9852-8. (CS1 errors: periodical ignored, Articles with short ...
However, some mutations (glycogen storage diseases and other inborn errors of carbohydrate metabolism) are seen with one ... Cofactors: Mg2+ G6P is then rearranged into fructose 6-phosphate (F6P) by glucose phosphate isomerase. Fructose can also enter ... Inborn errors of carbohydrate metabolism Pentose phosphate pathway Pyruvate decarboxylation Triose kinase Alfarouk KO, Verduzco ... In the second regulated step (the third step of glycolysis), phosphofructokinase converts fructose-6-phosphate into fructose-1, ...
Inborn errors of purine-pyrimidine metabolism, Inflammatory polyarthropathies, Rheumatology, Wikipedia medicine articles ready ... Risk of gout attacks can be lowered by complete abstinence from drinking alcoholic beverages, reducing the intake of fructose ( ... Skin conditions resulting from errors in metabolism, Steroid-responsive inflammatory conditions, Uric acid, Crystal deposition ... Halabe A, Sperling O (1994). "Uric acid nephrolithiasis". Mineral and Electrolyte Metabolism. 20 (6): 424-431. PMID 7783706. " ...
"Fructose Metabolism, Inborn Errors" by people in this website by year, and whether "Fructose Metabolism, Inborn Errors" was a ... "Fructose Metabolism, Inborn Errors" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ... Below are the most recent publications written about "Fructose Metabolism, Inborn Errors" by people in Profiles. ... Below are MeSH descriptors whose meaning is more general than "Fructose Metabolism, Inborn Errors". ...
Hommes, F. A. (1993). "Inborn errors of fructose metabolism". Am J Clin Nutr. 58 (5): 788S-795S. doi:10.1093/ajcn/58.5.788S. ... D-Glyceric acidemia (a.k.a. D-Glyceric aciduria) is an inherited disease, in the category of inborn errors of metabolism. It is ... as well as the breakdown of fructose. A deficiency in glycerate kinase activity leads to the accumulation of D-glyceric acid (a ...
... postulating that the defect was a deficiency of hepatic fructose 1-aldolase. ... Clinical intolerance to fructose was initially described in 1956. The following year, researchers reported a familial incidence ... Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine. Pediatr Clin North Am. ... An inborn error of fructose metabolism. Arch Dis Child. 1963 Jun. 38:220-30. [QxMD MEDLINE Link]. ...
Inborn error of metabolism. *Fructose intolerance. *Ketoacidosis (from diabetes). *Kidney failure. *Reye syndrome ... Defects in metabolism of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson ... Laboratory error. High or low amounts of individual plasma amino acids must be considered with other information. Abnormal ... Screening infants for increased levels of amino acids can help detect problems with metabolism. Early treatment for these ...
... postulating that the defect was a deficiency of hepatic fructose 1-aldolase. ... Clinical intolerance to fructose was initially described in 1956. The following year, researchers reported a familial incidence ... An inborn error of fructose metabolism. Arch Dis Child. 1963 Jun. 38:220-30. [QxMD MEDLINE Link]. ... Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance) * Sections Fructose 1-Phosphate Aldolase Deficiency (Fructose ...
Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inborn error of fructose metabolism caused by pathogenic variants in ... After a pilot test, the final version was sent to 25 practitioners working with inborn errors of metabolism (IEM) in 14 ... Abstract Background Phenylketonuria (PKU) is an inborn error of metabolism caused by deficient activity of phenylalanine ... BACKGROUND: Phenylketonuria (PKU) is an inborn error of metabolism caused by deficient activity of phenylalanine hydroxylase. ...
Fructose Metabolism Disorders - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - ... inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads ... Fructose metabolism disorders are one of the many carbohydrate metabolism disorders Overview of Carbohydrate Metabolism ... Also see testing for suspected inherited disorders of metabolism Initial testing Most inherited disorders of metabolism (inborn ...
Inborn Errors [C16.320.565]. *Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]. *Fructose Metabolism, Inborn Errors [ ... An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, ... Inborn Errors [C18.452.648]. *Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]. *Fructose Metabolism, Inborn Errors [ ... causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to ...
Fructose to fructose 1-P. Benign. Fructose appears in blood and urine. Fructose does not enter cells. ... Inborn errors of metabolism. - 31. Picmonics. With Picmonic, facts become pictures. Weve taken what the science shows - ... Fructose Intolerance. Pathophysiology. Deficiency of Aldolase B. Fructose 1-P To DHAP And GA. Accumulation Of Fructose-1- ...
ALDOB Gene Sequencing (Hereditary Fructose Intolerance). *CPT2 Gene Sequencing (CPT2 Deficiency). *Elevated C16 Gene Sequencing ... Inborn Errors of Metabolism Diagnostic Testing *Testing Catalogue and Requisition*ACADM Gene Sequencing (MCAD Deficiency) ... Download Inborn Errors of Metabolism requisition.. References. Bonnefont, J. P., F. Djouadi, et al. (2004). Carnitine ...
Inborn Errors [C16.320.565.202] * Congenital Disorders of Glycosylation [C16.320.565.202.125] * Fructose Metabolism, Inborn ... Metabolism, Inborn Errors [C18.452.648] * Carbohydrate Metabolism, Inborn Errors [C18.452.648.202] * Congenital Disorders of ... Genetic Diseases, Inborn [C16.320] * Metabolism, Inborn Errors [C16.320.565] * Carbohydrate Metabolism, ... Pyruvate Metabolism, Inborn Errors Preferred Concept UI. M0023592. Scope Note. Hereditary disorders of pyruvate metabolism. ...
Urine for reducing substances test is a screening test that is done to detect inborn errors of carbohydrate metabolism. This ... This test will detect the presence of reducing sugars, eg glucose, lactose, maltose, fructose and galactose. ... test helps to screen for disorders with increased excretion of glucose, fructose, galactose, succinylpurines, disaccharides, ...
Urine for reducing substances test is a screening test that is done to detect inborn errors of carbohydrate metabolism. This ... This test will detect the presence of reducing sugars, eg glucose, lactose, maltose, fructose and galactose. ... test helps to screen for disorders with increased excretion of glucose, fructose, galactose, succinylpurines, disaccharides, ...
... often referred to as inborn errors of metabolism, comprise a large class of genetic diseases involving disorders of metabolism ... Disorders of carbohydrate metabolism (carbohydrate metabolism disorders) Galactosemia. Fructose intolerance. Glycogen storage ... Inborn errors of metabolism are inherited genetic disorders that affect one or more of the hundreds of biochemical pathways in ... Inborn errors of metabolism in infancy and early childhood: an update. Am Fam Physician 2006;73:1981-90. ...
Query Trace: Hereditary fructose intolerance[original query] Vaccination strategies for people living with inborn errors of ... metabolism in Brazil. Ramos Barbara C F, et al. Jornal de pediatria 2022 0 0. ... Safety of Sars-Cov-2 vaccines administration for adult patients with hereditary fructose intolerance. Urru Silvana A M, et al. ... Reply letter to safety of SARS-Cov-2 vaccines administration for adult patients with hereditary fructose intolerance. ...
An inborn error of metabolism is suspected. Of the following, the MOST appropriate laboratory study to obtain is A. B. C. D. E ... D-Fructose + D-Glucose Classical Galactosemia on Diet Autosomal Recessive Inheritance Galactosemia Variants Gal-1-P-UDT ... Inborn Errors of Metabolism, the disease Alkaptonuria (Ochronosis: Homogentisic Acid Oxidase Deficiency) is described as being ... type I Phosphoenolpyruvate carboxykinase deficiency Respiratory Chain Disorders Secondary to Other Inborn Errors of Metabolism ...
... disorders of metabolism 277.81 Primary carnitine deficiency 277.82 Carnitine deficiency due to inborn errors of metabolism ... Gierkes disease 271.1 Galactosemia Galactose-1-phosphate uridyl transferase deficiency Galactosuria 271.2 Hereditary fructose ... 270.3 Disturbances of branched-chain amino-acid metabolism Disturbances of metabolism of leucine, isoleucine, and valine ... 275.1 Disorders of copper metabolism Hepatolenticular degeneration Wilsons disease 275.2 Disorders of magnesium metabolism ...
... may impact various inborn errors of metabolism. Since the liver is a critical organ in inborn errors of metabolism, we carried ... Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary ... Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism. Molecular genetics and metabolism ... 3-Methyl CoA carboxylase (3-MCC) deficiency is an inborn error of metabolism in the catabolism of the amino acid leucine. ...
... are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of ... metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at - 20 °C in the Danish Neonatal ... collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, ... Single cell transcriptome analyses reveal the roles of B cells in fructose-induced hypertension ...
Carbohydrate Metabolism, Inborn Errors. Carbohydrate metabolism, inborn errors refer to genetic disorders that affect the ... An enzyme that catalyzes the reversible isomerization of D-mannose-6-phosphate to form D-fructose-6-phosphate, an important ... Congenital Disorders of GlycosylationCarbohydrate Metabolism, Inborn ErrorsMuscle HypertoniaMetabolism, Inborn Errors ... Metabolism, Inborn Errors. Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired ...
New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS) ... Fructose vs. glucose and metabolism Academic Article * GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci ... Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism Academic Article ... A Method for Rapid Identification and Accurate Quantification of Biomarkers for Inborn Errors of Metabolism with Quality ...
Other Carbohydrate Metabolism Disorders - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck ... inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads ... Metabolism Disorders Overview of Carbohydrate Metabolism Disorders Carbohydrate metabolism disorders are errors of metabolism ... of Metabolism Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism ...
... which are also known as inborn errors of metabolism. Cellular metabolism consists of numerous interconnected pathways that are ... Accumulation of simple sugars such as galactose and fructose, whose metabolism plays a role in many different pathways, may ... inborn errors of metabolism are caused by mutant genes that produce abnormal enzymes whose function is altered. ... In 1908, physician Sir Archibald Garrod coined the term "inborn errors of metabolism" to suggest that defects in specific ...
Metabolic pathology / Inborn error of metabolism (E70-90, 270-279). Amino acid. Aromatic (Phenylketonuria, Alkaptonuria, ... fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism ( ... Fatty acid metabolism. Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma ... pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria. ...
Metabolic pathology / Inborn error of metabolism (E70-90, 270-279). Amino acid. Aromatic (Phenylketonuria, Alkaptonuria, ... fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism ( ... Refractive error: Hyperopia/Myopia - Astigmatism - Anisometropia/Aniseikonia - Presbyopia. Visual disturbances and blindness. ... Fatty acid metabolism. Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma ...
Implementation of next generation sequencing into newborn screening for inborn errors of metabolism and endocrinal disorders ( ... Intolérance héréditaire au fructose : rôle de la mutation de laldolase B dans les pathologies métaboliques et ... Cardiometabolic consequences of Hereditary Fructose Intolerance (NL55849.068.16). -3-Hydroxy-3-methylglutaryl-coenzyme A lyase ...
Many of the inborn errors of metabolism require avoidance or shortening of fasting intervals, or extra carbohydrates. For the ... or grape juice although fruit juices contain a higher proportion of fructose which is more slowly metabolized than pure ... but recurrent episodes nearly always indicate either an inborn error of metabolism, congenital hypopituitarism, or congenital ... hypopituitarism or an inborn error of metabolism and presents more of a management challenge. ...
Inborn Errors of Metabolism: A Scientists Discovery Nearly 100 years ago, a British scientist named Archibald Garrod ... Fructose intolerance Galactosemia is just one example of many metabolic diseases in which the body cannot process sugars ... Garrod called these diseases inborn errors of metabolism, a name that persists to this day. ... Once food and drink are broken down into substances that the body can use, the process called metabolism begins. Metabolism ...
New ways of defining protein and energy relationships in inborn errors of metabolism. Molecular Genetics and Metabolism, 112 (4 ... Acute metabolic and endocrine responses induced by glucose and fructose in healthy young subjects: a double-blinded, randomized ... The relationship between dietary intake, growth, and body composition in inborn errors of intermediary protein metabolism ... New ways of defining protein and energy relationships in inborn errors of metabolism ...
1 Carnitine deficiency due to inborn errors of metabolism Carnitine deficiency due to inborn errors of metabolism 04548 E7143 1 ... 0 Disorders of fructose metabolism Disorders of fructose metabolism 04613 E7410 1 Disorder of fructose metabolism, unspecified ... Hereditary fructose intolerance 04616 E7419 1 Other disorders of fructose metabolism Other disorders of fructose metabolism ... Disorders of ketone metabolism 04543 E7139 1 Other disorders of fatty-acid metabolism Other disorders of fatty-acid metabolism ...
  • Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. (sdsu.edu)
  • Within the next 4-5 years, the enzyme defect in aldolase B isozyme in the liver was demonstrated, and hereditary fructose intolerance (HFI) became recognized as a distinct clinical entity. (medscape.com)
  • The absence of the latter function readily explains the clinical hypoglycemia in individuals with hereditary fructose intolerance. (medscape.com)
  • Individuals who are obligate heterozygotes do not demonstrate the symptoms of hereditary fructose intolerance (HFI). (medscape.com)
  • Because the history may be vital to the diagnosis, the importance of taking an extensive dietary history, especially in individuals with hereditary fructose intolerance, cannot be overemphasized. (medscape.com)
  • Exceptionally good dental hygiene is a common feature among children with hereditary fructose intolerance, presumably because of diminished carbohydrate intake. (medscape.com)
  • Hereditary fructose intolerance is inherited as an autosomal recessive trait. (medscape.com)
  • The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (medscape.com)
  • A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. (medscape.com)
  • Coffee EM, Tolan DR. Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. (medscape.com)
  • Tolan DR. Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. (medscape.com)
  • This deficiency causes the clinical syndrome of hereditary fructose intolerance. (msdmanuals.com)
  • Safety of Sars-Cov-2 vaccines administration for adult patients with hereditary fructose intolerance. (cdc.gov)
  • The following year, researchers reported a familial incidence of the disorder in several family members, postulating that the defect was a deficiency of hepatic fructose 1-aldolase. (medscape.com)
  • Thus, in an infant who is homozygous for fructose 1-aldolase deficiency, fructose ingestion triggers a cascade of biochemical events that result in severe clinical disease. (medscape.com)
  • As in other autosomal recessive disorders, a pedigree is unlikely to reveal other family members with fructose 1-phosphate aldolase deficiency. (medscape.com)
  • Deficiency of enzymes that metabolize fructose may be asymptomatic or cause hypoglycemia. (msdmanuals.com)
  • Diagnosis of fructose 1-phosphate aldolase deficiency is suggested by symptoms in relation to recent fructose intake and is confirmed by DNA analysis. (msdmanuals.com)
  • This deficiency causes benign elevation of blood and urine fructose levels (benign fructosuria). (msdmanuals.com)
  • Untangling the Spirals of Metabolic Disease: Primary Diagnoses and Secondary Effects: Implications for Treatment David A. H. Whiteman MD 1909 Archibald Garrod In his paper, Inborn Errors of Metabolism, the disease Alkaptonuria (Ochronosis: Homogentisic Acid Oxidase Deficiency) is described as being caused by a gene. (abcdocz.com)
  • Enzyme deficiency decreases the rate of conversion of fructose-6-phosphate to fructose-1,6-diphosphate. (medscape.com)
  • Clinical intolerance to fructose was initially described in 1956. (medscape.com)
  • Fructose malabsorption and intolerance: effects of fructose with and without simultaneous glucose ingestion. (medscape.com)
  • Tsampalieros A, Beauchamp J, Boland M, Mack DR. Dietary fructose intolerance in children and adolescents. (medscape.com)
  • Fructose intolerance in children presenting with abdominal pain. (medscape.com)
  • Although lactose is the carbohydrate base in most infant formulas, some (eg, soy formulas) contain sucrose, a fructose-glucose disaccharide that may cause symptoms. (medscape.com)
  • Many soy formulas contain sucrose as a carbohydrate source that may supply enough fructose to cause clinical symptoms. (medscape.com)
  • Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet. (ouhsc.edu)
  • Eating large amounts of pro-inflammatory junk food (chicken nuggets, french fries, sugar (sucrose and fructose), refined carbohydrate, processed meat etc) is a poor choice for anyone, autistic or not. (epiphanyasd.com)
  • Overview of Carbohydrate Metabolism Disorders Carbohydrate metabolism disorders are errors of metabolism that affect the catabolism and anabolism of carbohydrates. (msdmanuals.com)
  • Urine for reducing substances test is a screening test that is done to detect inborn errors of carbohydrate metabolism. (blallab.com)
  • Carbohydrate metabolism, inborn errors refer to genetic disorders that affect the body's ability to properly process carbohydrates, leading to various metabolic disorders. (lookformedical.com)
  • An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. (ouhsc.edu)
  • D-Fructose + D-Glucose Classical Galactosemia on Diet Autosomal Recessive Inheritance Galactosemia Variants Gal-1-P-UDT GalKinase Epimerase 9p13 - p21 17q21-q22 1p32 - pter Duarte Los Angeles Indian Rennes Philadelphia Negro Chicago A 2-day-old female infant is refusing to feed and has become increasingly lethargic and hypotonic over the past 2 hours. (abcdocz.com)
  • Hereditary disorders of pyruvate metabolism. (nih.gov)
  • Some inherited metabolic disorders may alter pyruvate metabolism indirectly. (nih.gov)
  • Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders. (nih.gov)
  • The cause of severe hepatic dysfunction remains unknown but may be a manifestation of focal cytoplasmic degeneration and cellular fructose toxicity. (medscape.com)
  • Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. (ouhsc.edu)
  • Advances in the understanding of the pathogenesis of alcoholic steatosis have provided some useful insights, including the role of peroxisome proliferator-activated receptor alpha, which is crucial for the regulation of hepatic fatty acid metabolism. (medscape.com)
  • Affected individuals are completely asymptomatic until they ingest fructose. (medscape.com)
  • Because a decreased dependence on aerobic respiration becomes advantageous, cell metabolism is shifted toward glycolysis by the increased expression of glycolytic enzymes, glucose transporters, and inhibitors of mitochondrial metabolism. (pharmaceuticalintelligence.com)
  • Reduced cleavage of F-1-P leads to its cellular accumulation and fructokinase inhibition, causing free fructose accumulation in the blood. (medscape.com)
  • The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. (ouhsc.edu)
  • Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
  • Cellular metabolism consists of numerous interconnected pathways that are catalyzed by enzymes in a series of stepwise biochemical reactions. (newworldencyclopedia.org)
  • Cellular metabolism, involving the synthesis and breakdown of complex organic molecules, requires harmonious coordination of the various enzymes, biochemical reactions, and so forth. (newworldencyclopedia.org)
  • In 1908, physician Sir Archibald Garrod coined the term "inborn errors of metabolism" to suggest that defects in specific biochemical pathways were due to an inadequate supply or a lack of a given enzyme. (newworldencyclopedia.org)
  • Inborn metabolism errors consist of many infiltrative storage problems, the production of energy in an abnormal way, biochemical deficiencies and disorders associated with toxic substances accumulating within the heart. (epainassist.com)
  • the patients suffering from impaired energy metabolism fail to maintain biochemical stability of the body. (epainassist.com)
  • The rapid early progress in the understanding of this disorder may have occurred because of the fairly dramatic and difficult-to-miss symptoms associated with fructose ingestion. (medscape.com)
  • Previous confirmatory testing used liver biopsy or induction of hypoglycemia by fructose infusion 200 mg/kg IV. (msdmanuals.com)
  • Cancer Cell Metabolism. (pharmaceuticalintelligence.com)
  • It is hard to begin a discussion of cancer cell metabolism without first mentioning Otto Warburg. (pharmaceuticalintelligence.com)
  • The enzyme that controls the process is called FBP2, and researchers from the Abramson Cancer Center of the University of Pennsylvania, who detailed their findings in Cell Metabolism , also showed that manipulating sarcoma cells to ramp up FBP2 expression slows or even stops their growth entirely. (regenerativemedicine.net)
  • Thus, homozygous neonates remain clinically well until confronted with dietary sources of fructose. (medscape.com)
  • Molecular analysis of the fructose transporter gene(GLUT5) in isolated fructose malabsorption. (medscape.com)
  • Timing of fructose intake: an important regulator of adiposity. (medscape.com)
  • Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (lookformedical.com)
  • Disease processes may be incited or exacerbated by a variety of external and internal influences, including trauma , infection , poisoning , loss of blood flow , autoimmunity , inherited or acquired genetic damage, or errors of development . (bionity.com)
  • Nearly 100 years ago, a British scientist named Archibald Garrod suggested that people actually could inherit genetic (je-NE-tik) information that causes problems with the body's metabolism. (humanillnesses.com)
  • However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. (healthmatters.io)
  • Screening infants for increased levels of amino acids can help detect problems with metabolism. (medlineplus.gov)
  • Glycogen storage diseases (GSDs) are a group of inborn errors of metabolism, typically caused by enzyme defects, resulting in a buildup of glycogen in the liver, muscles, and other organs. (arupconsult.com)
  • Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. (rna-seqblog.com)
  • In lectures delivered in 1908, Garrod described several hereditary diseases that are caused by too little or complete lack of certain enzymes (EN-zimes). (humanillnesses.com)
  • Dr. Garrod called these diseases 'inborn errors of metabolism,' a name that persists to this day. (humanillnesses.com)
  • The instructions for building nearly all the enzymes involved in metabolism are stored as deoxyribonucleic acid (DNA) in the nucleus of the cell. (newworldencyclopedia.org)
  • inborn errors of metabolism are caused by mutant genes that produce abnormal enzymes whose function is altered. (newworldencyclopedia.org)
  • Centrilobular localization of steatosis results from decreased energy stores caused by relative hypoxia and a shift in lipid metabolism, along with a shift in the redox reaction as a result of preferential oxidation of alcohol in the central zone. (medscape.com)
  • Kim Y, Park SC, Wolf BW, Hertzler SR. Combination of erythritol and fructose increases gastrointestinal symptoms in healthy adults. (medscape.com)
  • An inborn error of metabolism is suspected as the cause of this patient's symptoms. (osmosis.org)
  • and condensation of the triose phosphates, glyceraldehyde phosphate, and dihydroxyacetone phosphate to form fructose 1,6-diphosphate). (medscape.com)
  • In normal cellular conditions, the primary enzymatic activity of aldolase B is to cleave fructose diphosphate (FDP), which forms rather than condenses the triose phosphate compounds. (medscape.com)
  • An enzyme that catalyzes the reversible isomerization of D-mannose-6-phosphate to form D-fructose-6-phosphate, an important step in glycolysis. (lookformedical.com)
  • catabolism) of serine, as well as the breakdown of fructose. (wikipedia.org)
  • Metabolism involves two main phases: 'building up' (anabolism) and 'breaking down' (catabolism). (humanillnesses.com)
  • In addition to these, 13 guardians of patients being followed up at an Outpatient Clinic for the Treatment of Inborn Errors of Metabolism were invited by phone call, and 12 accepted the invitation. (bvsalud.org)
  • Many patients develop a natural aversion to fructose-containing food. (msdmanuals.com)
  • La participation des patients se fait exclusivement sur base volontaire, et est indépendante du suivi clinique et de la prise en charge des patients au sein du centre. (cimm.be)
  • Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. (msdmanuals.com)
  • Initial testing Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. (msdmanuals.com)
  • It might help to think of metabolism as a kind of 'domino effect,' with each 'domino,' or chemical reaction, falling into place to create the end result. (humanillnesses.com)
  • Although our emphasis on the Warburg effect reflects the focus of the field, we would also like to encourage a broader approach to the study of cancer metabolism that takes into account the contributions of all interconnected small molecule pathways of the cell. (pharmaceuticalintelligence.com)
  • Metabolism actually is a series of chemical processes through which the body makes use of the nutrients in food to carry out its functions: growing, maintaining healthy tissues, disposing of wastes, producing the energy needed for moving, running, jumping, playing … and the list goes on. (humanillnesses.com)
  • For example, an upregulated metabolism may result in the build up of toxic metabolites, including lactate and noncanonical nucleotides, which must be disposed of (F). Moreover, cancer cells may also exhibit a high energetic demand, for which they must either increase flux through normal ATP-generating processes, or else rely on an increased diversity of fuel sources (G). (pharmaceuticalintelligence.com)
  • Fructose Metabolism, Inborn Errors" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (sdsu.edu)
  • This graph shows the total number of publications written about "Fructose Metabolism, Inborn Errors" by people in this website by year, and whether "Fructose Metabolism, Inborn Errors" was a major or minor topic of these publications. (sdsu.edu)
  • Below are the most recent publications written about "Fructose Metabolism, Inborn Errors" by people in Profiles. (sdsu.edu)
  • Vaccination strategies for people living with inborn errors of metabolism in Brazil. (cdc.gov)
  • Diagnostic errors can occur due to rare sequence variations. (arupconsult.com)