Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Carbohydrate Metabolism: Cellular processes in biosynthesis (anabolism) and degradation (catabolism) of CARBOHYDRATES.Amino Acid Metabolism, Inborn Errors: 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.Carbohydrates: The largest class of organic compounds, including STARCH; GLYCOGEN; CELLULOSE; POLYSACCHARIDES; and simple MONOSACCHARIDES. Carbohydrates are composed of carbon, hydrogen, and oxygen in a ratio of Cn(H2O)n.Dietary Carbohydrates: 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)Glucose: 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.Lipid Metabolism, Inborn Errors: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.Lipid Metabolism: Physiological processes in biosynthesis (anabolism) and degradation (catabolism) of LIPIDS.Energy Metabolism: The chemical reactions involved in the production and utilization of various forms of energy in cells.Neonatal Screening: 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.Glycolysis: 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.Starch: Any of a group of polysaccharides of the general formula (C6-H10-O5)n, composed of a long-chain polymer of glucose in the form of amylose and amylopectin. It is the chief storage form of energy reserve (carbohydrates) in plants.Carbohydrate Metabolism, Inborn ErrorsPurine-Pyrimidine Metabolism, Inborn ErrorsSteroid Metabolism, Inborn Errors: Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.GlycogenLiver: A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.Carbohydrate Sequence: The sequence of carbohydrates within POLYSACCHARIDES; GLYCOPROTEINS; and GLYCOLIPIDS.Lactates: Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.Urea Cycle Disorders, Inborn: 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.Blood Glucose: Glucose in blood.Insulin: A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).Brain Diseases, Metabolic, Inborn: 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.Gluconeogenesis: Biosynthesis of GLUCOSE from nonhexose or non-carbohydrate precursors, such as LACTATE; PYRUVATE; ALANINE; and GLYCEROL.Argininosuccinic Aciduria: 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.Hyperammonemia: Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.TrehaloseLiver Glycogen: Glycogen stored in the liver. (Dorland, 28th ed)Molecular Sequence Data: 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.Fructose: 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.Carbohydrate Conformation: The characteristic 3-dimensional shape of a carbohydrate.Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)HexosesSucrose: 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.Phenylketonurias: 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).Metabolic Networks and Pathways: Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.Mutation: 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.Smith-Lemli-Opitz Syndrome: 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.Phosphoglucomutase: An enzyme that catalyzes the conversion of alpha D-glucose 1-phosphate to alpha D-glucose 6-phosphate. EC 5.4.2.2.Phosphofructokinase-1: 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.Pentose Phosphate Pathway: An oxidative decarboxylation process that converts GLUCOSE-6-PHOSPHATE to D-ribose-5-phosphate via 6-phosphogluconate. The pentose product is used in the biosynthesis of NUCLEIC ACIDS. The generated energy is stored in the form of NADPH. This pathway is prominent in tissues which are active in the synthesis of FATTY ACIDS and STEROIDS.Citric Acid Cycle: A series of oxidative reactions in the breakdown of acetyl units derived from GLUCOSE; FATTY ACIDS; or AMINO ACIDS by means of tricarboxylic acid intermediates. The end products are CARBON DIOXIDE, water, and energy in the form of phosphate bonds.Phosphofructokinases: Allosteric enzymes that regulate glycolysis and gluconeogenesis. These enzymes catalyze phosphorylation of fructose-6-phosphate to either fructose-1,6-bisphosphate (PHOSPHOFRUCTOKINASE-1 reaction), or to fructose-2,6-bisphosphate (PHOSPHOFRUCTOKINASE-2 reaction).Fatty Acids: Organic, monobasic acids derived from hydrocarbons by the equivalent of oxidation of a methyl group to an alcohol, aldehyde, and then acid. Fatty acids are saturated and unsaturated (FATTY ACIDS, UNSATURATED). (Grant & Hackh's Chemical Dictionary, 5th ed)Glucose Tolerance Test: A test to determine the ability of an individual to maintain HOMEOSTASIS of BLOOD GLUCOSE. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg).Carbon Isotopes: Stable carbon atoms that have the same atomic number as the element carbon, but differ in atomic weight. C-13 is a stable carbon isotope.PyruvatesInfant, Newborn: An infant during the first month after birth.Galactose: An aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Oxidation-Reduction: A chemical reaction in which an electron is transferred from one molecule to another. The electron-donating molecule is the reducing agent or reductant; the electron-accepting molecule is the oxidizing agent or oxidant. Reducing and oxidizing agents function as conjugate reductant-oxidant pairs or redox pairs (Lehninger, Principles of Biochemistry, 1982, p471).Thermoproteus: A genus of obligately anaerobic ARCHAEA, in the family THERMOPROTEACEAE. They are found in acidic hot springs and water holes.Plant Tubers: An enlarged underground root or stem of some plants. It is usually rich in carbohydrates. Some, such as POTATOES, are important human FOOD. They may reproduce vegetatively from buds.beta-Fructofuranosidase: A glycoside hydrolase found primarily in PLANTS and YEASTS. It has specificity for beta-D-fructofuranosides such as SUCROSE.Refractive Errors: Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.Homogentisate 1,2-Dioxygenase: 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.Pyruvate Kinase: ATP:pyruvate 2-O-phosphotransferase. A phosphotransferase that catalyzes reversibly the phosphorylation of pyruvate to phosphoenolpyruvate in the presence of ATP. It has four isozymes (L, R, M1, and M2). Deficiency of the enzyme results in hemolytic anemia. EC 2.7.1.40.Fructosediphosphates: Diphosphoric acid esters of fructose. The fructose-1,6- diphosphate isomer is most prevalent. It is an important intermediate in the glycolysis process.Oxygen Consumption: The rate at which oxygen is used by a tissue; microliters of oxygen STPD used per milligram of tissue per hour; the rate at which oxygen enters the blood from alveolar gas, equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body. (Stedman, 25th ed, p346)Homocystinuria: 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)Candidiasis, Chronic Mucocutaneous: 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.Fatty Acids, Nonesterified: FATTY ACIDS found in the plasma that are complexed with SERUM ALBUMIN for transport. These fatty acids are not in glycerol ester form.Pyruvate Metabolism, Inborn Errors: 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.Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Magnetic Resonance Spectroscopy: Spectroscopic method of measuring the magnetic moment of elementary particles such as atomic nuclei, protons or electrons. It is employed in clinical applications such as NMR Tomography (MAGNETIC RESONANCE IMAGING).Time Factors: Elements of limited time intervals, contributing to particular results or situations.Carbon: A nonmetallic element with atomic symbol C, atomic number 6, and atomic weight [12.0096; 12.0116]. It may occur as several different allotropes including DIAMOND; CHARCOAL; and GRAPHITE; and as SOOT from incompletely burned fuel.Fabry Disease: 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.Carbon Dioxide: A colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals.Fermentation: Anaerobic degradation of GLUCOSE or other organic nutrients to gain energy in the form of ATP. End products vary depending on organisms, substrates, and enzymatic pathways. Common fermentation products include ETHANOL and LACTIC ACID.PolysaccharidesAustralian Capital Territory: 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.Ornithine Carbamoyltransferase Deficiency Disease: 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)Starvation: Lengthy and continuous deprivation of food. (Stedman, 25th ed)Argininosuccinic Acid: This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.Dietary Fats: Fats present in food, especially in animal products such as meat, meat products, butter, ghee. They are present in lower amounts in nuts, seeds, and avocados.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Plant Leaves: Expanded structures, usually green, of vascular plants, characteristically consisting of a bladelike expansion attached to a stem, and functioning as the principal organ of photosynthesis and transpiration. (American Heritage Dictionary, 2d ed)Isovaleryl-CoA Dehydrogenase: 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).Kinetics: The rate dynamics in chemical or physical systems.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Gene Expression Regulation, Plant: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in plants.Metabolism: 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.Hypophosphatasia: 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)Photosynthesis: The synthesis by organisms of organic chemical compounds, especially carbohydrates, from carbon dioxide using energy obtained from light rather than from the oxidation of chemical compounds. Photosynthesis comprises two separate processes: the light reactions and the dark reactions. In higher plants; GREEN ALGAE; and CYANOBACTERIA; NADPH and ATP formed by the light reactions drive the dark reactions which result in the fixation of carbon dioxide. (from Oxford Dictionary of Biochemistry and Molecular Biology, 2001)Pyruvic Acid: An intermediate compound in the metabolism of carbohydrates, proteins, and fats. In thiamine deficiency, its oxidation is retarded and it accumulates in the tissues, especially in nervous structures. (From Stedman, 26th ed)Glucagon: A 29-amino acid pancreatic peptide derived from proglucagon which is also the precursor of intestinal GLUCAGON-LIKE PEPTIDES. Glucagon is secreted by PANCREATIC ALPHA CELLS and plays an important role in regulation of BLOOD GLUCOSE concentration, ketone metabolism, and several other biochemical and physiological processes. (From Gilman et al., Goodman and Gilman's The Pharmacological Basis of Therapeutics, 9th ed, p1511)TriglyceridesMethylmalonic Acid: 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.Carnitine: A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.Diagnostic Errors: Incorrect diagnoses after clinical examination or technical diagnostic procedures.Brain Diseases, Metabolic: 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.Hydroxocobalamin: Injectable form of VITAMIN B 12 that has been used therapeutically to treat VITAMIN B 12 DEFICIENCY.Phosphorylases: A class of glucosyltransferases that catalyzes the degradation of storage polysaccharides, such as glucose polymers, by phosphorolysis in animals (GLYCOGEN PHOSPHORYLASE) and in plants (STARCH PHOSPHORYLASE).Lipids: A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)Pentanoic AcidsFasting: Abstaining from all food.Methylmalonyl-CoA Mutase: 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.Glycerol: A trihydroxy sugar alcohol that is an intermediate in carbohydrate and lipid metabolism. It is used as a solvent, emollient, pharmaceutical agent, and sweetening agent.Oxidoreductases Acting on CH-CH Group Donors: 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.PentosephosphatesMannose: A hexose or fermentable monosaccharide and isomer of glucose from manna, the ash Fraxinus ornus and related plants. (From Grant & Hackh's Chemical Dictionary, 5th ed & Random House Unabridged Dictionary, 2d ed)Fructose-Bisphosphate Aldolase: 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.Fructose-Bisphosphatase: 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.Oligosaccharides: Carbohydrates consisting of between two (DISACCHARIDES) and ten MONOSACCHARIDES connected by either an alpha- or beta-glycosidic link. They are found throughout nature in both the free and bound form.Metal Metabolism, Inborn ErrorsNitrogen: An element with the atomic symbol N, atomic number 7, and atomic weight [14.00643; 14.00728]. Nitrogen exists as a diatomic gas and makes up about 78% of the earth's atmosphere by volume. It is a constituent of proteins and nucleic acids and found in all living cells.Glycoside HydrolasesGlycerol Kinase: An enzyme that catalyzes the formation of glycerol 3-phosphate from ATP and glycerol. Dihydroxyacetone and L-glyceraldehyde can also act as acceptors; UTP and, in the case of the yeast enzyme, ITP and GTP can act as donors. It provides a way for glycerol derived from fats or glycerides to enter the glycolytic pathway. EC 2.7.1.30.Contraceptives, Oral, Sequential: Drugs administered orally and sequentially for contraceptive purposes.Fructose Metabolism, Inborn Errors: 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.Body Weight: The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.Diet: Regular course of eating and drinking adopted by a person or animal.Antigens, Tumor-Associated, Carbohydrate: Carbohydrate antigens expressed by malignant tissue. They are useful as tumor markers and are measured in the serum by means of a radioimmunoassay employing monoclonal antibodies.GlutaratesMuscle, Skeletal: A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.HexosephosphatesGlucosyltransferases: Enzymes that catalyze the transfer of glucose from a nucleoside diphosphate glucose to an acceptor molecule which is frequently another carbohydrate. EC 2.4.1.-.Metabolic Diseases: 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)Maple Syrup Urine Disease: 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)Cholesterol: The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.Amidinotransferases: Enzymes of a subclass of TRANSFERASES that catalyze the transfer of an amidino group from donor to acceptor. EC 2.1.4.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Lectins: Proteins that share the common characteristic of binding to carbohydrates. Some ANTIBODIES and carbohydrate-metabolizing proteins (ENZYMES) also bind to carbohydrates, however they are not considered lectins. PLANT LECTINS are carbohydrate-binding proteins that have been primarily identified by their hemagglutinating activity (HEMAGGLUTININS). However, a variety of lectins occur in animal species where they serve diverse array of functions through specific carbohydrate recognition.Porphyria, Erythropoietic: 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.Plant Proteins: Proteins found in plants (flowers, herbs, shrubs, trees, etc.). The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available.Acetates: Derivatives of ACETIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxymethane structure.Energy Intake: Total number of calories taken in daily whether ingested or by parenteral routes.Insulin Resistance: Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.Glutaryl-CoA Dehydrogenase: 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.Culture Media: Any liquid or solid preparation made specifically for the growth, storage, or transport of microorganisms or other types of cells. The variety of media that exist allow for the culturing of specific microorganisms and cell types, such as differential media, selective media, test media, and defined media. Solid media consist of liquid media that have been solidified with an agent such as AGAR or GELATIN.Proteome: The protein complement of an organism coded for by its genome.Metabolome: The dynamic collection of metabolites which represent a cell's or organism's net metabolic response to current conditions.Tandem Mass Spectrometry: A mass spectrometry technique using two (MS/MS) or more mass analyzers. With two in tandem, the precursor ions are mass-selected by a first mass analyzer, and focused into a collision region where they are then fragmented into product ions which are then characterized by a second mass analyzer. A variety of techniques are used to separate the compounds, ionize them, and introduce them to the first mass analyzer. For example, for in GC-MS/MS, GAS CHROMATOGRAPHY-MASS SPECTROMETRY is involved in separating relatively small compounds by GAS CHROMATOGRAPHY prior to injecting them into an ionization chamber for the mass selection.Hyperargininemia: A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)Failure to Thrive: A condition of substandard growth or diminished capacity to maintain normal function.Solanum tuberosum: A plant species of the genus SOLANUM, family SOLANACEAE. The starchy roots are used as food. SOLANINE is found in green parts.Glucosephosphate DehydrogenaseIron Metabolism Disorders: Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)Maltose: A dextrodisaccharide from malt and starch. It is used as a sweetening agent and fermentable intermediate in brewing. (Grant & Hackh's Chemical Dictionary, 5th ed)Carbon Radioisotopes: Unstable isotopes of carbon that decay or disintegrate emitting radiation. C atoms with atomic weights 10, 11, and 14-16 are radioactive carbon isotopes.Enzymes: Biological molecules that possess catalytic activity. They may occur naturally or be synthetically created. Enzymes are usually proteins, however CATALYTIC RNA and CATALYTIC DNA molecules have also been identified.Disaccharides: Oligosaccharides containing two monosaccharide units linked by a glycosidic bond.Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase: An NAD-dependent 3-hydroxyacyl CoA dehydrogenase that has specificity for acyl chains containing 8 and 10 carbons.Reference Values: The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.Alkaptonuria: An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.Obesity: A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).Mass Spectrometry: An analytical method used in determining the identity of a chemical based on its mass using mass analyzers/mass spectrometers.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.Ketone Bodies: The metabolic substances ACETONE; 3-HYDROXYBUTYRIC ACID; and acetoacetic acid (ACETOACETATES). They are produced in the liver and kidney during FATTY ACIDS oxidation and used as a source of energy by the heart, muscle and brain.Rats, Inbred Strains: Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations or by parent x offspring matings carried out with certain restrictions. This also includes animals with a long history of closed colony breeding.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Citrullinemia: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)Hexokinase: An enzyme that catalyzes the conversion of ATP and a D-hexose to ADP and a D-hexose 6-phosphate. D-Glucose, D-mannose, D-fructose, sorbitol, and D-glucosamine can act as acceptors; ITP and dATP can act as donors. The liver isoenzyme has sometimes been called glucokinase. (From Enzyme Nomenclature, 1992) EC 2.7.1.1.Glycogen Synthase: An enzyme that catalyzes the transfer of D-glucose from UDPglucose into 1,4-alpha-D-glucosyl chains. EC 2.4.1.11.Transcriptome: The pattern of GENE EXPRESSION at the level of genetic transcription in a specific organism or under specific circumstances in specific cells.beta-Amylase: An enzyme that catalyzes the hydrolysis of 1,4-alpha-glycosidic linkages in starch, glycogen, and related polysaccharides and oligosaccharides so as to remove successive beta-maltose units from the non-reducing ends of the chains. EC 3.2.1.2.Multiple Acyl Coenzyme A Dehydrogenase Deficiency: An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).Xylulose: A 5-carbon keto sugar.PhosphoenolpyruvateMucopolysaccharidoses: Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.Gene Expression Regulation, Bacterial: Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.Glucose-1-Phosphate Adenylyltransferase: An ATP-dependent enzyme that catalyzes the addition of ADP to alpha-D-glucose 1-phosphate to form ADP-glucose and diphosphate. The reaction is the rate-limiting reaction in prokaryotic GLYCOGEN and plant STARCH biosynthesis.Glucokinase: A group of enzymes that catalyzes the conversion of ATP and D-glucose to ADP and D-glucose 6-phosphate. They are found in invertebrates and microorganisms, and are highly specific for glucose. (Enzyme Nomenclature, 1992) EC 2.7.1.2.Dietary Proteins: Proteins obtained from foods. They are the main source of the ESSENTIAL AMINO ACIDS.Genes, Plant: The functional hereditary units of PLANTS.Homeostasis: The processes whereby the internal environment of an organism tends to remain balanced and stable.Glucose-6-Phosphate Isomerase: An aldose-ketose isomerase that catalyzes the reversible interconversion of glucose 6-phosphate and fructose 6-phosphate. In prokaryotic and eukaryotic organisms it plays an essential role in glycolytic and gluconeogenic pathways. In mammalian systems the enzyme is found in the cytoplasm and as a secreted protein. This secreted form of glucose-6-phosphate isomerase has been referred to as autocrine motility factor or neuroleukin, and acts as a cytokine which binds to the AUTOCRINE MOTILITY FACTOR RECEPTOR. Deficiency of the enzyme in humans is an autosomal recessive trait, which results in CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA.Eating: The consumption of edible substances.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.GluconatesGlycosylation: The chemical or biochemical addition of carbohydrate or glycosyl groups to other chemicals, especially peptides or proteins. Glycosyl transferases are used in this biochemical reaction.Gas Chromatography-Mass Spectrometry: A microanalytical technique combining mass spectrometry and gas chromatography for the qualitative as well as quantitative determinations of compounds.Ethynodiol Diacetate: A synthetic progestational hormone used alone or in combination with estrogens as an oral contraceptive.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Bacterial Proteins: Proteins found in any species of bacterium.Monosaccharides: Simple sugars, carbohydrates which cannot be decomposed by hydrolysis. They are colorless crystalline substances with a sweet taste and have the same general formula CnH2nOn. (From Dorland, 28th ed)Perfusion: Treatment process involving the injection of fluid into an organ or tissue.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Adenylosuccinate Lyase: An enzyme that, in the course of purine ribonucleotide biosynthesis, catalyzes the conversion of 5'-phosphoribosyl-4-(N-succinocarboxamide)-5-aminoimidazole to 5'-phosphoribosyl-4-carboxamide-5-aminoimidazole and the conversion of adenylosuccinic acid to AMP. EC 4.3.2.2.Acyl-CoA Dehydrogenase: A flavoprotein oxidoreductase that has specificity for medium-chain fatty acids. It forms a complex with ELECTRON TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.Hydrogen-Ion Concentration: The normality of a solution with respect to HYDROGEN ions; H+. It is related to acidity measurements in most cases by pH = log 1/2[1/(H+)], where (H+) is the hydrogen ion concentration in gram equivalents per liter of solution. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)Pyruvate Dehydrogenase Complex Deficiency Disease: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.Plant Roots: The usually underground portions of a plant that serve as support, store food, and through which water and mineral nutrients enter the plant. (From American Heritage Dictionary, 1982; Concise Dictionary of Biology, 1990)Lysosomal Storage Diseases: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.Ornithine-Oxo-Acid Transaminase: A pyridoxal phosphate enzyme that catalyzes the formation of glutamate gamma-semialdehyde and an L-amino acid from L-ornithine and a 2-keto-acid. EC 2.6.1.13.Chromatography, High Pressure Liquid: Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed.XyloseGlucose-6-Phosphate: An ester of glucose with phosphoric acid, made in the course of glucose metabolism by mammalian and other cells. It is a normal constituent of resting muscle and probably is in constant equilibrium with fructose-6-phosphate. (Stedman, 26th ed)Aerobiosis: Life or metabolic reactions occurring in an environment containing oxygen.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Glycoproteins: Conjugated protein-carbohydrate compounds including mucins, mucoid, and amyloid glycoproteins.RNA, Plant: Ribonucleic acid in plants having regulatory and catalytic roles as well as involvement in protein synthesis.Adipose Tissue: Specialized connective tissue composed of fat cells (ADIPOCYTES). It is the site of stored FATS, usually in the form of TRIGLYCERIDES. In mammals, there are two types of adipose tissue, the WHITE FAT and the BROWN FAT. Their relative distributions vary in different species with most adipose tissue being white.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Adaptation, Physiological: The non-genetic biological changes of an organism in response to challenges in its ENVIRONMENT.Eriobotrya: A plant genus of the family ROSACEAE that is the source of an edible fruit. Members contain TRITERPENES.

Polysaccharide storage myopathy in Morgan, Arabian, and Standardbred related horses and Welsh-cross ponies. (1/185)

Polysaccharide storage myopathy is an equine neuromuscular disorder characterized by accumulation of glycogen-related polysaccharide inclusions within skeletal muscle fibers. The pathologic criteria for diagnosis of this disorder are somewhat controversial; however, periodic acid-Schiff-positive, amylase-resistant inclusions are considered pathognomonic. Although these inclusions are most often found in affected horses related to the Quarter Horse, draft horse, and Warmblood breeds, this report describes these characteristic inclusions in muscle of five horses from nonrelated breeds (two Morgans, one Arabian, one Arabian x Thoroughbred, and one Standardbred) and two Welsh cross ponies. Affected horses had histories of recurrent exertional rhabdomyolysis, and one developed progressive weakness leading to increased recumbency. The affected ponies were part of an unrelated research project and had no apparent clinical signs.  (+info)

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. (2/185)

Glucosidase I is an important enzyme in N-linked glycoprotein processing, removing specifically distal alpha-1,2-linked glucose from the Glc3Man9GlcNAc2 precursor after its en bloc transfer from dolichyl diphosphate to a nascent polypeptide chain in the endoplasmic reticulum. We have identified a glucosidase I defect in a neonate with severe generalized hypotonia and dysmorphic features. The clinical course was progressive and was characterized by the occurrence of hepatomegaly, hypoventilation, feeding problems, seizures, and fatal outcome at age 74 d. The accumulation of the tetrasaccharide Glc(alpha1-2)Glc(alpha1-3)Glc(alpha1-3)Man in the patient's urine indicated a glycosylation disorder. Enzymological studies on liver tissue and cultured skin fibroblasts revealed a severe glucosidase I deficiency. The residual activity was <3% of that of controls. Glucosidase I activities in cultured skin fibroblasts from both parents were found to be 50% of those of controls. Tissues from the patient subjected to SDS-PAGE followed by immunoblotting revealed strongly decreased amounts of glucosidase I protein in the homogenate of the liver, and a less-severe decrease in cultured skin fibroblasts. Molecular studies showed that the patient was a compound heterozygote for two missense mutations in the glucosidase I gene: (1) one allele harbored a G-->C transition at nucleotide (nt) 1587, resulting in the substitution of Arg at position 486 by Thr (R486T), and (2) on the other allele a T-->C transition at nt 2085 resulted in the substitution of Phe at position 652 by Leu (F652L). The mother was heterozygous for the G-->C transition, whereas the father was heterozygous for the T-->C transition. These base changes were not seen in 100 control DNA samples. A causal relationship between the alpha-glucosidase I deficiency and the disease is postulated.  (+info)

The ultrastructure of hepatocytes in alpha-1-antitrypsin deficiency with the genotype Pi--. (3/185)

The ultrastructural appearance of the endoplasmic reticulum of the hepatocytes was found to be normal in a 5-year-old girl with alpha-1-antitrypsin deficiency with the genotype Pi--. The liver ultrastructure of this variant is therefore different from that of alpha-1-antitrypsin deficiency with the genotype PiZZ in which aggregates of an abnormal, unsecreted alpha-1-antitrypsin accumulate in the endoplasmic reticulum of the hepatocytes. The normal appearance of the endoplasmic reticulum in alpha-1-antitrypsin deficiency with the genotype Pi-- is compatible with the hypothesis, in this variant, synthesis of alpha-1-antitrypsin is completely, or nearly completely, absent; an alternative hypothesis would be that an abnormal alpha-1-antitrypsin is produced by the liver and secreted into the plasma, but disappears rapidly from the plasma.  (+info)

Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. (4/185)

Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive human intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase, the components of the intestinal integral membrane glycoprotein sucrase-isomaltase (SI). Several known phenotypes of CSID result from an altered posttranslational processing of SI. We describe here a novel CSID phenotype, in which pro-SI undergoes an unusual intracellular cleavage that eliminates its transmembrane domain. Biosynthesis of pro-SI in intestinal explants and in cells transfected with the SI cDNA of this phenotype demonstrated a cleavage occurring within the endoplasmic reticulum due to a point mutation that converts a leucine to proline at residue 340 of isomaltase. Cleaved pro-SI is transported to and processed in the Golgi apparatus and is ultimately secreted into the exterior milieu as an active enzyme. To our knowledge this is the first report of a disorder whose pathogenesis results not from protein malfolding or mistargeting, but from the conversion of an integral membrane glycoprotein into a secreted species that is lost from the cell surface.  (+info)

Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG). (5/185)

Congenital Disorders of Glycosylation (CDG) are human deficiencies in glycoprotein biosynthesis. Previous studies showed that 1 mM mannose corrects defective protein N-glycosylation in cultured fibroblasts from some CDG patients. We hypothesized that these CDG cells have limited GDP-mannose (GDP-Man) and that exogenous mannose increases the GDP-Man levels. Using a well established method to measure GDP-Man, we found that normal fibroblasts had an average of 23.5 pmol GDP-Man/10(6) cells, whereas phosphomannomutase (PMM)-deficient fibroblasts had only 2.3-2.7 pmol/10(6) cells. Adding 1 mM mannose to the culture medium increased the GDP-Man level in PMM-deficient cells to approximately 15.5 pmol/10(6) cells, but had no significant effect on GDP-Man levels in normal fibroblasts. Similarly, mannose supplementation increased GDP-Man from 4.6 pmol/10(6) cells to 24.6 pmol/10(6) cells in phosphomannose isomerase (PMI)-deficient fibroblasts. Based on the specific activity of the GDP-[(3)H]Man pool present in [2-(3)H]mannose labeled cells, mannose supplementation also partially corrected the impaired synthesis of mannosylphosphoryldolichol (Man-P-Dol) and Glc(0)(-)(3)Man(9)GlcNAc(2)-P-P-Dol. These results confirm directly that deficiencies in PMM and PMI result in lowered cellular GDP-Man levels that are corrected by the addition of mannose. In contrast to these results, GDP-Man levels in fibroblasts from a CDG-Ie patient, who is deficient in Man-P-Dol synthase, were normal and unaffected by mannose supplementation even though mannose addition was found to correct abnormal lipid intermediate synthesis in another study (Kim et al. [2000] J. Clin. Invest., 105, 191-198). The mechanism by which mannose supplementation corrects abnormal protein N-glycosylation in Man-P-Dol synthase deficient cells is unknown, but this observation suggests that the regulation of Man-P-Dol synthesis and utilization may be more complex than is currently understood.  (+info)

Radial and linear thin-layer chromatographic prodedures compared for screening urines to detect oligosaccharidoses. (6/185)

We describe a circular (radial) thin-layer chromatographic procedure for separating urinary oligosaccharides. Results were better than those obtained by a single linear development. Bands and specific patterns were finely resolved for various known oligosaccharidoses. The procedure provides a simple means of screening for these disorders.  (+info)

Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia. (7/185)

The biochemical hallmark of Congenital Disorders of Glycosylation (CDG) including type Ia is a defective N-glycosylation of serum glycoproteins. Hypoglycosylated forms of alpha1-antitrypsin have been detected by Western blot in serum from CDG Ia patients. In contrast we were not able to detect hypoglycosylation in alpha1-antitrypsin synthesized by fibroblasts, keratinocytes, enterocytes, and leukocytes. Similarly no hypoglycosylation was detectable in a membrane-associated N-linked glycoprotein, the facilitative glucose transporter GLUT-1 and also in serum immunoglobulin G isolated from sera of CDG Ia patients. We conclude that the phenotypic expression of CDG Ia is tissue-dependent.  (+info)

Incidence of polysaccharide storage myopathy in draft horse-related breeds: a necropsy study of 37 horses and a mule. (8/185)

Skeletal muscle samples from 38 draft horse-related animals 1-23 years of age were evaluated for evidence of aggregates of glycogen and complex polysaccharide characteristic of equine polysaccharide storage myopathy (EPSSM). Cardiac muscle from 12 of these horses was also examined. Antemortem serum levels of creatine kinase (CK) and aspartate aminotransferase (AST) from 9 horses with EPSSM and 5 horses without EPSSM were compared. Skeletal muscle from 17 horses contained inclusions of periodic acid-Schiff (PAS)-positive, amylase-resistant complex polysaccharide. Similar inclusions were also present in the cardiac muscle of 1 horse. A vacuolar myopathy with aggregates of PAS-positive, amylase-sensitive glycogen was seen in 8 other horses, and these findings are also considered diagnostic for EPSSM. Antemortem serum activities of CK and AST were often higher in EPSSM horses than in horses without EPSSM. Using the presence of amylase-resistant complex polysaccharide as the criterion for diagnosis of EPSSM, the incidence in this population was 45%. Inclusion of horses with aggregates of glycogen but no amylase-resistant complex polysaccharide as representative of the range of pathologic findings in horses with EPSSM resulted in a 66% incidence in this population.  (+info)

Mannosidosis is a genetic disorder characterized by a lysosomal enzyme deficiency resulting in progressive mental and physical deterioration.
In terms of performance, users should keep in mind that the warm-up time during a power failure, pull down time, uniformity a ...
n Ritz V, et al. Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. Gastroenterology. 125(6):1678-85, 2003. ...
Sucrose intolerance, also called sucrase-isomaltase deficiency, congenital sucrase-isomaltase deficiency (CSID), or genetic sucrase-isomaltase deficiency (GSID), is the condition in which sucrase-isomaltase, an enzyme needed for proper metabolism of sucrose (sugar) and starch (i.e., grains and rice), is not produced or the enzyme produced is either partially functional or non-functional in the small intestine. All GSID patients lack fully functional sucrase, while the isomaltase activity can vary from minimal functionality to almost normal activity. The presence of residual isomaltase activity may explain why some GSID patients are better able to tolerate starch in their diet than others with GSID. The highest prevalence rates are seen in the Inuit populations of Greenland (5-10%), Alaska (3-7%) and Canada (about 3%). European descent prevalence ranges from 0.2% to 0.05%. There is a lower prevalence reported in African Americans and Hispanics compared to Caucasians. Abdominal cramps and bloating ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Hereditary fructose intolerance
Mutations in the sucrase-isomaltase gene can lead to the synthesis of transport-incompetent or functionally altered enzyme in congenital sucrase-isomaltase deficiency (CSID) (Naim, H. Y., J. Roth, E. Sterchi, M. Lentze, P. Milla, J. Schmitz, and H. P. Hauri. J. Clin. Invest. 82:667-679). In this paper we have characterized two novel mutant phenotypes of CSID at the subcellular and protein levels. The first phenotype revealed a sucrase-isomaltase protein that is synthesized as a single chain, mannose-rich polypeptide precursor (pro-SI) and is electrophoretically indistinguishable from pro-SI in normal controls. By contrast to normal controls, however, pro-SI does not undergo terminal glycosylation in the Golgi apparatus. Subcellular localization of pro-SI by immunoelectron microscopy revealed unusual labeling of the molecule in the basolateral membrane and no labeling in the brush border membrane thus indicating that pro-SI is missorted to the basolateral membrane. Mapping of biosynthetically ...
If Congenital Sucrase-Isomaltase Deficiency is suspected, there are several approaches that can be used to help diagnose this disorder. For more information about CSID, a symptoms checklist, and information about a free breath test, complete the form.
For those with sucrose intolerance, also known as congenital sucrase-isomaltase deficiency (CSID), sucrose-containing foods are very problematic since they cannot be digested
Congenital disorder of glycosylation type 1/IIX information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Onset in Infancy after Weaning Symptom Checker: Possible causes include Hereditary Fructose Intolerance. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Leavitt AD, Minichiello T. Leavitt A.D., & Minichiello T Leavitt, Andrew D., and Tracy Minichiello.Congenital Disorders of Platelet Function. In: Papadakis MA, McPhee SJ, Rabow MW. Papadakis M.A., & McPhee S.J., & Rabow M.W.(Eds.),Eds. Maxine A. Papadakis, et al.eds. Current Medical Diagnosis and Treatment 2020. McGraw-Hill; Accessed July 09, 2020. https://accessmedicine.mhmedical.com/content.aspx?bookid=2683§ionid=225044979 ...
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Fiona Waddell represents CDG within ﻽VKS﻽, the Dutch Umbrella organization for metabolic diseases. When she was eighteen months old, the doctors discovered that she had liver fibrosis, but she always had problems which didnt fit the diagnosis. It was only when she was fifteen years old that she was diagnosed with MPI-CDG. She was the second patient in the world who was diagnosed with this illness ...
The commonly seen dysfunctions in patients suffering from this disease are distinctive facial features, intellectual disability, and skeletal abnormalities.
CHFXC : Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements
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Toshiba has begun shipping a 14TB helium-filled hard drive to clients, its largest capacity to date and the company's first foray into helium territory. Of course, helium-filled HDDs are not new, and WD already released a 14TB HDD a couple of months ago. However, Toshiba's is the industry's first HDD to pack nine disks inside, and the only 14TB drive to use conventional magnetic recording (CMR) technology.The new drive is part of Toshiba's MG07ACA series. It is available in both 12TB and 14TB capacities, both of which are CMR drives.We have raised the bar with the new MG07ACA Series 9-disk helium-sealed design, said Akitoshi Iwata, Vice President of Storage Products Division, Toshiba Electronic Devices and Storage Corporation. By utilizing an innovative design, we continue to improve the benefits that high-capacity disk storage can deliver to our broad global customer base.There are a couple of things to note about the 14TB model that make it sta
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Background & Aims: Celiac disease (CD) has been associated with several genetic disorders, but has not been associated with hereditary fructose intolerance (HFI). Methods: We identified CD in 4 female patients affected by HFI from among 38 Italian HFI patients. Results: Three of these patients were children in whom the CD-associated signs were hypertransaminasemia, failure to thrive, low weight, and short stature, whereas the adult patient had protracted diarrhea notwithstanding a fructose-free diet. The incidence of CD in our group of HFI patients was higher (,10%) than in the general population (1%-3%) (P , .02). Conclusions: The possibility of an association between these 2 gastrointestinal disorders is important, particularly in the management of HFI patients with persisting symptoms.. ...
Fructose intolerance may cause inexplicable GI symptoms. The elevated yield of positive tests in our preliminary study may be due to recommendation bias or testing conditions; lesser test dose formed a lower yield. Nevertheless, credit and management of fructose intolerance may facilitate several patients. The researchers recommended that patients with arcane symptoms must be tested with a noninvasive breath test before dismissing their symptoms as either imprecise or ahead of making a diagnosis of functional bowel disorder, because fructose intolerance is treatable.. ...
Glucose-galactose malabsorption is a rare condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them. Glucose and galactose are called simple sugars, or monosaccharides. Sucrose and lactose are called disaccharides because they are made from two simple sugars, and are broken down into these simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and lactose is broken down into glucose and galactose. As a result, lactose, sucrose and other compounds made from carbohydrates cannot be digested by individuals with glucose-galactose malabsorption. The SLC5A1 gene provides instructions for producing a sodium/glucose cotransporter protein called SGLT1. This protein is found mainly in the intestinal tract and, to a lesser extent, in the kidneys, where it is involved in transporting glucose and the structurally similar ...
TY - JOUR. T1 - Nutritional therapies in congenital disorders of glycosylation (CDG). AU - Witters, Peter. AU - Cassiman, David. AU - Morava-Kozicz, Eva. PY - 2017/11/1. Y1 - 2017/11/1. N2 - Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group. There are only a few treatable CDG. Mannose-Phosphate Isomerase (MPI)-CDG was the first treatable CDG by high dose mannose supplements. Recently, with the successful use of D-galactose in Phosphoglucomutase 1 (PGM1)-CDG, other CDG types have been trialed on galactose and with an increasing number of potential nutritional therapies. Current mini review focuses on therapies in glycosylation disorders affecting liver function and dietary intervention in general in N-linked glycosylation disorders. We ...
... (CDG 2A) is a part of a group of rare inherited conditions that are present at birth (congenital) and involve defects in the glycosylation process. Glycosylation involves the joining of sugars and proteins (to form glycoproteins) by enzymes (proteins that function to convert specific substances in the body) in the cells of our bodies. These sugars (glycans) must be properly attached to specific proteins in the cells in order for the cells to function correctly. Due to the many functions of these glycoproteins throughout the body, if an error occurs in one of the many steps of the process, a wide variety of health problems may occur beginning in infancy. Symptoms can include psychomotor delays (movement, coordination, dexterity), mental retardation, and distinct physical features including thin lips, large gums, low-set rotated ears, and small head circumference. Some affected individuals may have gastrointestinal problems like diarrhea and reflux. ...
Fructose Intolerance, Hereditary. In: Hay, Jr WW, Levin MJ, Deterding RR, Abzug MJ. Hay, Jr W.W., Levin M.J., Deterding R.R., Abzug M.J. Eds. William W. Hay, Jr, et al.eds. Quick Medical Diagnosis & Treatment Pediatrics New York, NY: McGraw-Hill; . http://accesspediatrics.mhmedical.com/content.aspx?bookid=2196§ionid=166957338. Accessed January 18, 2018 ...
Dr. Berookim is a colonoscopy Los Angeles doctor that specializes in all types of digestive health issues. Fructose intolerance can be a pain to deal with that is why Dr. Berookim is giving his patients all the information they need to avoid any health issues related to this. The colonoscopy Los Angeles gives their ...
Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related housekeeping genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, ...
Genetics Home Reference : 25 ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures ...
On the stringent fructose-absolutely free diet regime, her third pregnancy proceeded nicely; the kid, who was also identified to get fructose intolerance, did well on a fructose-totally free food plan. Analysis of fructose intolerance was claimed to are already verified during the mother by biopsy from the liver. Presumably the father of those youngsters was at least heterozygous to the fructose intolerance gene ...
Fructose is a simple sugar that occurs naturally in some foods -- notably, fruit. Its 1.2 times sweeter than sucrose, or table sugar, and because of this, manufacturers often use it as an added ...
I know you are searching for a way to get well, to get thin, to have more energy, to feel better. But… unfortunately, especially in a country where everyone is an immigrant, you have literally nothing in common with most of the people you know.. In addition to that, you may have been exposed to gluten, to fructose, and now you are sensitive, or intolerant to one or both.. In addition to that: you live on a different budget, you like and eat different foods, and the foods you eat therefore lack this or that or most minerals you need for health.. You may have any of four different energy body types, three different Ayurvedic body types, Any of four different blood types… not even mentioning your ethnicity, your food sensitivities and intolerances… your nutritional deficiencies that you are unaware of.. Your mutt factor.. Your water intake and the quality of water you drink. Your activity level. Your ancestry.. So if you want to do this Wildfit program, you owe it to yourself to have your ...
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Pf Morava: We could offer a cure for most of the symptoms of PMM2-CDG by enzyme replacement, or chaperone therapy or genetic manipulations. The real important question is though, what can we do for the central nervous system disease. Patient already have a brain malformation in most cases of PMM2-CDG at birth; can we treat that, or could we prevent that, to be able to "treat the brain" as well, and not only "the body" in CDG? Currently, we do not have a treatment option to "reset" organs, which had a developmental problem during fetal life. Theoretically, to do that, we would need to know the diagnosis very early and would need to treat the patients before they are born. This is still utopistic in 2016. ...
Important It is possible that the main title of the report Congenital Disorders of Glycosylation Type Ia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...
Hudson Freeze, a recipient of the 2013 Golden Goose award for his discovery of a special bacterium and a world expert in glycosylation disorders, is said to go beyond just science.
The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011 ...
Congenital heart defects (CHDs) are not very uncommon these days in children; it impacts six to eight in every 1,000 children born in India.
Dr. McInnes will meet with you & address your individual situation and discuss the risks and benefits of having surgery to help make the right decision for you.
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Medline Industries, Inc. All rights reserved. Advancing the Health of Healthcare is a trademark and Medline is a registered trademark of Medline Industries, Inc ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
Human diseases [BR:br08402] Other congenital disorders Chromosomal abnormalities H01562 Patau syndrome Human diseases in ICD-11 classification [BR:br08403] 20 Developmental anomalies Chromosomal anomalies, excluding gene mutations LD40 Complete trisomies of the autosomes H01562 Patau syndrome ...
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A case of hereditary fructose intolerance is reported in a girl aged 2 years at the time of her death. She had apparently progressed normally until the age of 14 months. At 19 months she was admitted to hospital with failure to thrive, hepatomegaly, and superficial infections. Investigations revealed hypoglycaemia, persistent acidosis, aminoaciduria, and a high liver glycogen level which suggested that she had glycogen storage disease. There was also some evidence of malabsorption.. At necropsy the liver enzyme estimations showed that fructose 1-phosphate aldolase activity was absent and that fructose 1,6-diphosphate aldolase activity was reduced. Hereditary fructose intolerance and glycogen storage disease have been confused in the past on clinical grounds, but a high liver glycogen level has not previously been reported in hereditary fructose intolerance.. ...
Looking for online definition of sialic acid storage disease in the Medical Dictionary? sialic acid storage disease explanation free. What is sialic acid storage disease? Meaning of sialic acid storage disease medical term. What does sialic acid storage disease mean?
Is fructose intolerance part of the IBS puzzle? Some new research has looked at the role that ingesting foods that contain fructose, a type of sugar found in fruits and some vegetables, has on unpleasant digestive symptoms. An enzyme deficiency that causes toxic symptoms when fructose containing food is ingested is the formal explanation about fructose intolerance. A positive finding for fructose intolerance would be a rise in breath hydrogen.. Fructose intolerance is a condition where the body has difficult digesting and using fructose and fructose-containing foods. It is treated by complete elimination of fructose and sucrose from the diet. For these people eating lactose can cause symptoms of bloating, stomach cramps, loose stools, nausea and flatulence. A much less well known condition, although similar to lactose intolerance, is fructose malabsorption.. In fructose malabsorption a persons ability to absorb fructose, fruit sugar, is impaired. This results in fructose passing through the ...
Fructose Intolerance: 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.
My son has been complaining recently about tummy aches after eating certain fruits like grapes and watermelon. Lately, he cant seem to tolerate apple juice even though its his favorite drink. Could the fruit be causing his pain? I thought that feeding him fruits was a healthy choice?. Generally, fruits and vegetables are a healthy choice for children. In fact, according to the U.S. Department of Agriculture, it is recommended that children ages 2-3 eat 1 cup of fruit per day, those ages 4-8 consume 1-1.5 cups, those ages 9-13 consume 1.5 cups, and those 14-18 consume 1.5-2 cups of fruit per day.. Fruits, fruit juices and some vegetables, however, contain a naturally occurring sugar known as fructose. Fructose is also found in honey, table sugar and high-fructose corn syrup used to sweeten many processed foods and beverages. Some people may suffer from fructose intolerance, a condition in which the bodys digestive system doesnt absorb fructose properly. This can result in abdominal pain, ...
Genetics Home Reference : 25 PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family ...
Feeds that are high in starch, such as sweet feed, maize, wheat, oats, barley, and molasses, appear to facilitate the development of type 1 and type 2 PSSM. That is why these ingredients should be avoided for horses that have PSSM. Extra calories can be provided in the form of fat (oil) for performance horses that are prone to PSSM. An important part of the management of PSSM horses is daily exercise. This enhances glucose utilization, and improves energy metabolism in skeletal muscle. If only the diet is changed, researchers have found that approximately 50% of horses improve. If both diet and exercise are altered, then 90% of horses have no or few episodes of tying-up. An old theory about tying-up is that it is due to too much lactic acid in the muscle. Many exercise studies have proven that this is absolutely not the case with PSSM.. The unique feature of PSSM is that the muscle cells in PSSM horses remove sugar from the blood stream and transported into their muscle at a faster rate, and ...
The following are some subtle signs that have been observed in affected Draft horses. Please indicate any that your horse may have had, with any comments that you think may be useful.. Lack of muscle mass or conditioning, especially in the shoulder or hind quarters _____. "Stringhalt", "shivers", or fibrotic myopathy-type gait, especially when backing or turning _____. Trembling, especially after exercise _____. Difficulty rising, backing, or reluctance to back _____. Lack of energy _____. Poor performance _____. Reluctance to pick up feet for shoeing, etc. _____. Lifting or "stomping" of hind limb or limbs, especially while standing _____. ...
Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates. Here we report the generation of a fucosidosis mouse model, in which the gene for lysosomal α-L-fucosidase (Fuca1) was disrupted by gene targeting. Homozygous knock-out mice completely lack α-L-fucosidase activity in all tested organs leading to highly elevated amounts of the core-fucosylated glycoasparagine Fuc(α1,6)-GlcNAc(β1-N)-Asn and, to a lesser extent, other fucosylated glycoasparagines, which all were also partially excreted with the urine. Lysosomal storage pathology was observed in many visceral organs like liver, kidney, spleen and bladder as well as in the CNS. On the cellular level storage was characterized by membrane-limited cytoplasmic vacuoles primarily containing water-soluble storage material. In the CNS cellular alterations included enlargement of the lysosomal compartment in ...
Thanks for stopping by! My name is Carrie. This is where I talk about all things FPIES, Fructose Malabsorption, Food Allergies, Real Food, Recipes, and MCAD. Click on the photo for more on my family and what this blog is about, and thank you for visiting! Be sure to subscribe so you never miss a recipe! (Dont worry, your email is safe with me.) ...
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations ...
From UniProt:. Congenital disorder of glycosylation 1H (CDG1H): A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. [MIM:608104]. ...
Q. Ive had hemochromatosis for more than two years. Before that I had been diagnosed with fructose intolerance. I began eating more pickled krauts and other ...
Glyphosate and Birth Defects - Earth Open Source - Free download as PDF File (.pdf), Text File (.txt) or read online for free. Científicos europeos colaboradores de Earth Open Source se expiden con mucho detalle e información sobre la relación entre el uso de plaguicidas y los defectos de nacimiento.
While conclusive evidence remains to be seen, researchers believe that arthritis may be genetic. Read on to learn more about heredity and the disorder.
As energy saving regulations are gradually tightened and products continue to be miniaturized, demand is increasing for microcontrollers (MCUs) with low pin-count that can efficiently control multiple motors. The new products meet requirements for the motor control systems of home appliances, such as air-conditioners, and are based on the ARM® Cortex®-M4F, which incorporates a floating point processing unit. Integrated features include a high-precision AD convertor with a 0.5 μs conversion speed, high-speed Flash memory with 80 MHz operation, and a co-processor for Toshibas original vector engine. Together, they ensure the new products realize efficient motor control while improving the power factor and system control.. ...
InterPro provides functional analysis of proteins by classifying them into families and predicting domains and important sites. We combine protein signatures from a number of member databases into a single searchable resource, capitalising on their individual strengths to produce a powerful integrated database and diagnostic tool.
Birth defects, also called congenital disorders, are health problems that a child is born with. They represent a wide range of health conditions, ranging from minor to life-threatening. Babies born with birth defects are at a greater risk for disabilities or illnesses later in life.
Conditions that affect the uterus (womb) include benign or malignant (cancerous) growths, congenital disorders, infection, and hormonal imbalances that may affect menstrual flow.
Anyone who has known a child born with a congenital disorder, paralyzed in an accident or challenged by a complex medical condition knows that hope and healing are inseparable.
Definition: Broad nasal bridge is a widening of the top part of the nose, it can be associated with certain genetic or congenital disorders. ...
Although at first I thought that El Cartel Del Golfo (CDG) beheaded this girl as a response to the decapitation of four of their women by Los Zetas, later I found out that the beheading was done as a response to the murder of Comandante Gallo - one of top CDG commanders who was also reportedly decapitated by Los Zetas.. The girl in this video looks to be very young and is very scared - anyone would be in her situation. For her the life has barely begun and she knew it would soon end in a horrific way.. The video also proves my theory that Mexican henchmen finally admitted to themselves that they simply cant do beheadings with a knife, so now instead of cutting the heads of their captives off, they chop them off with machetes or axes.. Beheading of this captured young Zeta started with a mandatory pre execution interrogation after which the girl had her throat slashed with the machete. Her hands were in handcuffs, but were cuffed in front of her, not behind her back. That messed with the ...
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Adding the fat calories (vegetable oil) to the diet is as important as removing the starches and sugars from grain sources. Depending on severity of the condition, the horse may have comfort restrictions in exercising or work, but some exercise is required to begin rebuilding damaged muscles. As the recovery proceeds, exercise may increase to best occupy the horses attention and maintain recovery.. Molasses is added to many feeds and grains to control dust and to sweeten (sugar) the feed to entice appetite. The sugars and starches in molasses, however, are a problem for EPSM-symptomatic horses. The horses appetite will often decline when molasses is withdrawn. This will pass as the horse relearns the taste of feed without molasses.. Some regions are naturally selenium-sufficient, and additional supplements should be added with care. A local veterinarian can advise about local selenium levels. . Part of the hay ration may be taken as beet pulp shreds, alfalfa pellets, or a combination, to ...
Get an overview of the disorders of carbohydrate metabolism and amino acid metabolism and learn more about glycogen storage disease, GALT deficiency, phenylketonuria, homocystinuria, and alkaptonuria. Glycogen storage diseases ✓, galactosemia ✓, hereditary fructose intolerance ✓. Read more!
This test is performed following a positive screen for Urine Reducing Substances in order to identify the specific sugars present, and provide a qualitative estimation. Sugar chromatography may aid the diagnosis of classical galactosaemia, sucrose malabsorption, lactose intolerance or fructosuria/hereditary fructose intolerance. Glucose is commonly present in small amounts in the urine of healthy individuals. Lactose, and galactose, may also be present following the ingestion of milk and milk products.. Other sugars of dietary origin (eg. arabinose, xylose, fructose) may also be present as trace amounts, or as a result of the rare disorder of essential pentosurias.. ...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
or. symbol for a residue (or molecule) of N‐acetylneuraminic acid (i.e. sialic acid). It accumulates in lysosomes in Salla disease and infantile sialic acid storage disease, and in cell cytosol in sialuria.. [...] ...
Polysaccharide storage myopathy (PSSM) is a muscle disease that occurs in many different breeds of horse, though primarily in Quarter Horses, Paint Horses and Appaloosas.
Shanti, B., Silink, M., Bhattacharya, K., Howard, N., Carpenter, K., Fietz, M., Clayton, P., Christodoulou, J. (2009). Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. Journal of Inherited Metabolic Disease, Short Report #166 - online, 1-11. [More Information] ...
Autor: Guillard, Mailys et al.; Genre: Zeitschriftenartikel; Im Druck veröffentlicht: 2009-09; Keywords: Glycosylation; Cutis laxa; V-ATPase; Congenital disorders of glycosylation; OMIM 219200; Apolipoprotein C III; Titel: Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
At least 26 mutations in the FUCA1 gene have been found to cause fucosidosis. Most of these mutations result in an abnormally short, nonfunctional alpha-L-fucosidase enzyme. Without this enzyme, glycolipids and glycoproteins cannot be completely broken down. These partially broken down compounds accumulate in the lysosomes and cause cells throughout the body to malfunction. Brain cells are particularly sensitive to the buildup of glycolipids and glycoproteins, which can result in cell death. Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. Accumulation of glycolipids and glycoproteins also occurs in other organs such as the liver, spleen, skin, heart, pancreas, and kidneys, contributing to the additional symptoms of fucosidosis. ...
Mol Genet Metab. 2008 Jun;94(2):255-8. Epub 2008 Mar 10. Transaldolase deficiency in a two-year-old boy with cirrhosis. Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT. In this brief communication, the authors describe a new patient with transaldolase deficiency, with hematological, renal and hepatic manifestations. They also review previously reported cases of […]. ...
The major manifestations of this condition result from abnormalities in the brain, eye, and nervous system. Infants are noted to be floppy at birth and as they grow they fail to achieve normal milestones. Feeding problems are common and many children require some type of tube feeding to maintain nutrition. The amount of brain involvement is variable but most have some degree of cognitive impairment. The nature and severity of clinical problems vary widely. Motor development is impaired in most patients and muscle wasting is sometimes seen. Heart disease in the form of cardiomyopathy is common and many individuals, especially infants, develop liver disease. The sex organs, both primary and secondary may develop abnormally. Severe infections are always a threat. Older patients may develop abnormal curvature of the spine (kyphoscoliosis) and may eventually be confined to a wheelchair. Virtually all patients have reduced vision secondary to constant eye movements and inability to focus on targets. ...
This project merges basic science with patient-relevant translational research because it identifies the causes of rare genetic diseases that impair protein N-g...
Diseases of the spinal column and cord include congenital disorders, degenerative diseases, inflammatory and infectious diseases, neoplasia, nutritional diseases, trauma, toxic disorders, and vascular diseases. Many of these diseases are discussed in full in other chapters and are only briefly described here. For a discussion of congenital disorders related to the spinal column and cord, .
On behalf of the CDG Community, NGLY1.org, and Sanford Burnham Prebys Medical Discovery Institute, the 2016 CDG Family Conference was held February 27-29th in Del Mar, CA. Featuring 15 captivating presentations from a diverse panel of experts, 27 families united to support and enhance CDG research, knowledge, therapeutic and alternative treatment strategies. The conference sessions were recorded and the post-conference video program can be viewed on the CDG CARE YouTube Channel.. ...
DIM + CDG supports multiple detoxification pathways involved in healthy hormonal regulation.* Calcium D-Glucarate (CDG) supports glucuronidation, which is an important pathway in detoxification.* BioResponse DIM provides the cruciferous indole, Diindolylmethane (DIM), which is also involved in the livers natural detoxification process.* DIM + CDG supports healthy estrogen and testosterone balance in both women and men.* Keep out of the reach of children.
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This is a kids book that I wrote. Its illustrated by my sister, Laura Bydlowska whos incredibly talented as you can all see. It was inspired by my son, Hugo. I wanted to help him deal and understand his difference (specifically, his congenital disorder called Syndactyly) and show him that he was just like every other…
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At work, I encountered an interesting problem: While testing the Fibre Channel (FC) scalability of a storage product, we needed to create a lot of FC connections between hosts and the storage system. This would in turn require a large number of FC Initiators, each of which having a unique World-Wide Port Name (WWPN).. The easiest and cheapest method to set up a lot of initiators without actually purchasing zillions of FC HBAs would be to use N_Port ID Virtualization, a.k.a. NPIV. This method allows a single FC HBA to present itself to the FC fabric with multiple WWPNs. This, in turn, allows the creation of many connections to the target storage device from a small number of hosts.. ...
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Http www imd berlin de en diagnostics information hereditary fructose intolerance hfi a food intolerance in children and s html fpies fructose malabsorption and a virus 3 natural ways to relieve disfort when you can fructose not a training blog this week but a food and bodily functions blog so if you get squeamish then please don t read on
... is a chapter in the book, Endocrinology, containing the following 14 pages: Inborn Errors of Metabolism, Disorders of Energy Metabolism, Lysosomal Storage Disease, Inborn Error of Small Molecule Metabolism, Hereditary Fructose Intolerance, Galactosemia, Type 1 Gauchers Disease, Type 2 Gauchers Disease, Homocystinuria, MCAD Deficiency, Methylmalonic acidemia, Ornithine Transcarbamylase Deficiency, Phenylketonuria, Tay-Sachs Disease.
Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a combined disorder of N- and O-linked glycosylation was described in children with congenital cutis laxa in association with severe central nervous system involvement, brain migration defects, seizures and hearing loss. We report on seven additional patients with similar clinical features in combination with congenital disorder of glycosylation type IIx. On the basis of phenotype in 10 patients, we define an autosomal recessive cutis laxa syndrome. The patients have a complex phenotype of neonatal cutis laxa, transient feeding intolerance, late closure of the fontanel, characteristic facial features including down-slanting palpebral fissures, short nose and small mouth, and developmental delay. There is a variable degree of the central nervous system involvement and variable systemic presentation. The biochemical analysis using transferrin isoelectric focusing gives false ...
Sialic acid storage disease, also known as Salla disease, is a lysosomal storage disorder caused by defective transport of lysosomal degradation product, free sialic acid, across the lysosomal membrane. Functional consequences come only from central nervous system presenting slowly progressive mental retardation associated with ataxia and some other neurological manifestations. Affected infants present first signs of the disease already at 3 to 9 months of age as muscular hypotonia, truncal and limb ataxia, often transient nystagmus and delayed motor development. Developmental profile of SD patients is characterized by slowly progressive general handicap with motor performance more severely and earlier affected than cognitive skills. All patients are severely mentally retarded from third decade on. Life span of affected patients is close to normal.
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (E73-E74, 271) Including glycogen storage diseases ... Other Inborn errors of carbohydrate metabolism. References[edit]. *^ Goppert F. (1917). "Galaktosurie nach Milchzuckergabe bei ... "An Overview of Expanded Newborn Screening for Inborn Errors of Metabolism" (PDF). Nutrition Issues in Gastroenterology. ... the accumulation of galactose becomes the substrate for enzymes that catalyze the polyol pathway of carbohydrate metabolism. ...
It was characterized as an inborn error of carbohydrate metabolism in 1908. It is associated with a deficiency of L-xylulose ... Knox, W. Eugene (December 1958). "Sir Archibald Garrod's "Inborn Errors of Metabolism" IV.Pentosuria". The American Journal of ... Scriver CR (October 2008). "Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, ... However glucose metabolism is normal in people with pentosuria, and they are not diabetic. Patients of pentosuria have a low ...
The lack of two important enzymes in fructose metabolism results in the development of two inborn errors in carbohydrate ... Fructolysis refers to the metabolism of fructose from dietary sources. Though the metabolism of glucose through glycolysis uses ... The metabolism of fructose at this point yields intermediates in gluconeogenic pathway leading to glycogen synthesis, or can be ... Although the metabolism of fructose and glucose share many of the same intermediate structures, they have very different ...
Inborn errors of metabolism , Patient". Patient. Retrieved 2016-08-11. Kishnani, Priya S.; Austin, Stephanie L.; Arn, Pamela; ... Glycogen is a molecule the body uses to store carbohydrate energy. Symptoms of GSD-III are caused by a deficiency of the enzyme ... Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of ... carbohydrates) characterized by a deficiency in glycogen debranching enzymes. It is also known as Cori's disease in honor of ...
... carbohydrate metabolism, inborn errors MeSH C18.452.648.202.125 --- carbohydrate-deficient glycoprotein syndrome MeSH C18.452. ... amino acid metabolism, inborn errors MeSH C18.452.648.066.102 --- albinism MeSH C18.452.648.066.102.090 --- albinism, ocular ... pyruvate metabolism, inborn errors MeSH C18.452.648.202.810.444 --- leigh disease MeSH C18.452.648.202.810.666 --- pyruvate ... purine-pyrimidine metabolism, inborn errors MeSH C18.452.648.798.368 --- gout MeSH C18.452.648.798.368.410 --- arthritis, gouty ...
... carbohydrate metabolism, inborn errors MeSH C16.320.565.202.125 --- carbohydrate-deficient glycoprotein syndrome MeSH C16.320. ... amino acid metabolism, inborn errors MeSH C16.320.565.066.102 --- albinism MeSH C16.320.565.066.102.090 --- albinism, ocular ... pyruvate metabolism, inborn errors MeSH C16.320.565.202.810.444 --- leigh disease MeSH C16.320.565.202.810.666 --- pyruvate ... purine-pyrimidine metabolism, inborn errors MeSH C16.320.565.798.368 --- gout MeSH C16.320.565.798.368.410 --- arthritis, gouty ...
... both transient and persistent Inborn errors of carbohydrate metabolism such as glycogen storage disease Single episodes of ... hypopituitarism or an inborn error of metabolism and presents more of a management challenge. Transient neonatal hypoglycemia ... but recurrent episodes nearly always indicate either an inborn error of metabolism, congenital hypopituitarism, or congenital ... Autonomic neuropathy Beginning stages of diabetes Benign glucosuria Binge drinking Bulimia nervosa Burns Cachexia Carbohydrate- ...
Many of the inborn errors of metabolism require avoidance or shortening of fasting intervals, or extra carbohydrates. For the ... Inborn errors of metabolism may include the lack of an enzyme to make glycogen (glycogen storage type 0). Serious illness may ... inborn error of metabolism, severe infections, reactive hypoglycemia, and a number of drugs including alcohol. Low blood sugar ... inborn errors of metabolism, severe infections, reactive hypoglycemia, and a number of drugs including alcohol. Low blood sugar ...
... are inborn error of metabolism that affect the catabolism and anabolism of ... The failure to effectively use these molecules accounts for the majority of the inborn errors of human carbohydrates metabolism ... Carbohydrate metabolism. Medical Genetics. 3rd edition. Chapter 7. Biochemical genetics:Disorders of metabolism. pp139-142. ... Carbohydrates account for a major portion of the human diet. These carbohydrates are composed of three principal ...
Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, ... Inborn Errors of Metabolism at Electronic Scholarly Publishing site Vernon, Hilary (Jun 2015). "Inborn Errors of Metabolism: ... Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority ... Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases.[ ...
Tarui's disease - An inborn error of glycogen metabolism characterized by phosphofructokinase deficiency in the muscles, ... where he conducted clinical research on disorders of carbohydrate metabolism. He was appointed as Associate Professor of ...
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (E73-E74, 271) Including glycogen storage diseases ... "Carbohydrate metabolism and its diseases" Archived 2014-09-22 at the Wayback Machine., p. 46 in Kaneko J.J., Harvey J.W., Bruss ... Darlington, W. (August 1979). Metabolism of sucrose by Stepococcus sanguis 804 (NCTC 10904) and its relevance to the oral ... Wolever, Thomas M. S. (2006). The Glycaemic Index: A Physiological Classification of Dietary Carbohydrate. CABI. p. 64. ISBN ...
Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Glycoproteinoses) (E77, 271.8). Anabolism. *Dolichol ...
Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Glycoproteinoses) (E77, 271.8). Anabolism. *Dolichol ... Carbohydrates Can Be Attached to Proteins to Form Glycoproteins. *Carbohydrate Chemistry and Glycobiology: A Web Tour SPECIAL ... Interact with specific carbohydrates Lectins, selectins (cell adhesion lectins), antibodies Receptor Various proteins involved ... The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as ...
Inborn error of metabolism Leukocyte adhesion deficiency Freeze HH, Eklund EA, Ng BG, Patterson MC (May 2012). "Neurology of ... Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K (1998). "Carbohydrate-deficient glycoprotein syndrome type V ... is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is ... Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G (1994). "Carbohydrate deficient glycoprotein syndrome type II ...
In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential ... in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino ... These tests might evaluate for chromosomal disorders, inborn errors of metabolism, or single gene disorders. Chromosome studies ... Specialty genetics clinics focusing on management of inborn errors of metabolism, skeletal dysplasia, or lysosomal storage ...
The insufficiency of L-xylulose reductase activity causes an inborn error of metabolism disease characterized by excessive ... The enzyme is involved in carbohydrate metabolism, glucose metabolism, the uronate cycle and may play a role in the water ...
... (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.[3] ... "Dietary Reference Intakes for Energy, Carbohydrates, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids. Washington ... Sarafoglou, Kyriakie; Hoffmann, Georg F.; Roth, Karl S. (eds.). Pediatric Endocrinology and Inborn Errors of Metabolism. New ... an inborn error of phenylalanine metabolism". The Clinical Biochemist. Reviews. 29 (1): 31-41. PMC 2423317. PMID 18566668.. ...
Familial types of disorders of fatty acid metabolism are generally classified as inborn errors of lipid metabolism. These ... Carbohydrates, on the other hand, are more highly hydrated. For example, 1 g of glycogen can bind approximately 2 g of water, ... and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to ... Miller DN, Bazzano G; Bazzano (1965). "Propanediol metabolism and its relation to lactic acid metabolism". Ann NY Acad Sci. 119 ...
Metabolism. {{Inborn errors of carbohydrate metabolism}}. Medicine. Inborn error of carbohydrate metabolism: monosaccharide ... Metabolism. {{Inborn errors of purine-pyrimidine metabolism}}. Medicine. Inborn error of purine-pyrimidine metabolism (E79, ... Inborn errors of metal metabolism}}. (none). Inborn error of metal metabolism (E83, 275). Metabolic disorder templates. Footer ... Metabolism. {{Fatty-acid metabolism disorders}}. Medicine. Inborn error of lipid metabolism: fatty-acid metabolism disorders ( ...
Multiple carboxylase deficiency, an inborn error of metabolism, can lead to biotin deficiency even when dietary biotin intake ... Vitamin B12 is involved in the cellular metabolism of carbohydrates, proteins and lipids. It is essential in the production of ... Biotin plays a key role in the metabolism of lipids, proteins and carbohydrates. It is a critical co-enzyme of four ... Most are also found in small quantities in whole unprocessed carbohydrate based foods. Processed carbohydrates such as sugar ...
Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography- ... One-step metabolomics: carbohydrates, organic and amino acids quantified in a single procedure, J Vis Exp 40". "WedMD ... It can detect as many as 110 inborn errors of metabolism ("IEMs", or metabolic disorders) from a urine specimen. Cordlife owns ... to 250 metabolites that are excreted in the urine are analysed using the GC-MS for the detection of inborn errors of metabolism ...
... and identifiable inborn errors of metabolism such as organic acidoses. The most useful diagnostic tests include measurement of ... In mild cases, carbohydrates and a few hours of sleep will be enough to end the symptoms. Thus said, the required amount of ... The child should be given a bedtime snack of carbohydrates (e.g. spaghetti or pasta or milk) and should be awakened and fed ... If a spell begins, carbohydrates and fluids should be given promptly. If vomiting prevents this, the child should be taken to ...
Various inborn errors of metabolism are caused by deficiencies of enzymes necessary for glycogen synthesis or breakdown. These ... This process is known as carbohydrate loading. In general, glycemic index of carbohydrate source does not matter since muscular ... Restoration of normal glucose metabolism usually normalizes glycogen metabolism, as well. In hypoglycemia caused by excessive ... sparing carbohydrate use from all sources. Third, by consuming large quantities of carbohydrates after depleting glycogen ...
... in various inborn errors of metabolism, and intentionally induced via a ketogenic diet, and in ketoacidosis (usually due to ... Acetoacetate is an intermediate in the Krebs cycle which releases energy from sugars and carbohydrates. In medicine, acetone, ... acetoacetate, and beta-hydroxybutyrate are collectively called ketone bodies, generated from carbohydrates, fatty acids, and ...
... in various inborn errors of metabolism, and intentionally induced via a ketogenic diet, and in ketoacidosis (usually due to ... Acetoacetate is an intermediate in the Krebs cycle which releases energy from sugars and carbohydrates.[22] ... Representative ketones, from the left: acetone, a common solvent; oxaloacetate, an intermediate in the metabolism of sugars; ... generated from carbohydrates, fatty acids, and amino acids in most vertebrates, including humans. Ketone bodies are elevated in ...
Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of ... The failure to effectively use these molecules accounts for the majority of the inborn errors of human carbohydrates metabolism ... Carbohydrate metabolism. Medical Genetics. 3rd edition. Chapter 7. Biochemical genetics:Disorders of metabolism. pp139-142. ... Carbohydrates account for a major portion of the human diet. These carbohydrates are composed of three principal ...
MOLECULAT APPROACH FOR PREVENTION OF UNEXPECTED INFANT DEATH CAUSED BY INBORN ERRORS IN METABOLISM OF CARBOHYDRATE. Research ...
... - Glycogen storage disease All mammalian cells can ... Inborn Errors of Carbohydrate Metabolism Medical Assignment Help. - Diameties Mellitus and Other Desorder of Metabolism ... Home » Diameties Mellitus and Other Desorder of Metabolism » Inborn Errors of Carbohydrate Metabolism ... Defects of fructose metabolism. Absorbed fructose is chiefly metabolised in the liver to lactic acid or glucose. Three defects ...
Make research projects and school reports about Inborn errors of metabolism easy with credible articles from our FREE, online ... and pictures about Inborn errors of metabolism at Encyclopedia.com. ... Inborn errors of metabolism are inherited disorders in which the body cannot metabolize the components of food (carbohydrates ... inborn errors of metabolism See genetic disease. Cite this article Pick a style below, and copy the text for your bibliography ...
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (E73-E74, 271) Including glycogen storage diseases ... Other Inborn errors of carbohydrate metabolism. References[edit]. *^ Goppert F. (1917). "Galaktosurie nach Milchzuckergabe bei ... "An Overview of Expanded Newborn Screening for Inborn Errors of Metabolism" (PDF). Nutrition Issues in Gastroenterology. ... the accumulation of galactose becomes the substrate for enzymes that catalyze the polyol pathway of carbohydrate metabolism. ...
Metabolism, Inborn Errors. *Lipid Metabolism, Inborn Errors. *Carbohydrate Metabolism, Inborn Errors. *(and 20 more...) ... the level of cholesterol metabolism. 20. All. 2 Years to 64 Years (Child, Adult). NCT02707211. Pfizer-Prevenar13-2015. June ... The effect of sebelipase alfa on lipid metabolism.. *The effect of sebelipase alfa on growth parameters in pediatric patients ... Interdisciplinary Metabolism Center, Lipid Out-Patient-Clinic, Lipid Apheresis, Charité, University of Berlin. Berlin, Germany ...
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