Metabolites amino acid transport disorders inborn. Medical search. Frequent questions

A deficiency of this enzyme is responsible for an inherited disorder of metabolism, methylmalonyl-CoA mutase deficiency, which is one of the causes of methylmalonic acidemia (also referred to as methylmalonic aciduria or MMA). (wikipedia.org)
MMA is an autosomal recessive inherited inborn error of metabolism, characterized by recurrent episodes of vomiting, lethargy, profound ketoacidosis, hyperammonemia, and pancytopenia in infancy, and may cause early death. (wikipedia.org)
Inborn errors of metabolism (IEMs) are a large group of rare genetic diseases that generally result from a defect in an enzyme or transport protein which results in a block in a metabolic pathway. (medscape.com)
An understanding of the major clinical manifestations of inborn errors of metabolism provides the basis for knowing when to consider the diagnosis. (medscape.com)
Asymptomatic neonates with newborn screening results positive for an inborn error of metabolism may require emergent evaluation including confirmatory testing and, as appropriate, initiation of disease-specific management. (medscape.com)
Inborn errors of metabolism describes a class of over 1000 inherited disorders caused by mutations in genes coding for proteins that function in metabolism. (medscape.com)
The instructions for building nearly all the enzymes involved in metabolism are stored as deoxyribonucleic acid (DNA) in the nucleus of the cell. (newworldencyclopedia.org)
In 1908, physician Sir Archibald Garrod coined the term "inborn errors of metabolism" to suggest that defects in specific biochemical pathways were due to an inadequate supply or a lack of a given enzyme. (newworldencyclopedia.org)
inborn errors of metabolism are caused by mutant genes that produce abnormal enzymes whose function is altered. (newworldencyclopedia.org)
Amino acids also contribute to cellular energy metabolism by providing a carbon source for entry into the citric acid cycle (tricarboxylic acid cycle), especially when a primary source of energy, such as glucose, is scarce, or when cells undergo metabolic stress. (wikipedia.org)
Spectrum of common and rare small molecule inborn errors of metabolism diagnosed in a tertiary care centre. (alliedacademies.org)
Inborn errors of metabolism form a large group of genetic diseases involving defects in genes coding for enzymes, receptors, cofactors etc. in metabolic pathways [ 1 ]. (alliedacademies.org)
Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. (alliedacademies.org)
Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
Inborn errors of metabolism (IEMs) individually are rare but collectively are common. (medscape.com)
For patients with suspected or known inborn errors of metabolism, successful emergency treatment depends on prompt institution of therapy aimed at metabolic stabilization. (medscape.com)
The frequencies for each individual inborn error of metabolism vary, but most are very rare. (medscape.com)
Of term infants who develop symptoms of sepsis without known risk factors, as many as 20% may have an inborn error of metabolism. (medscape.com)
Mortality can be very high for certain inborn errors of metabolism (IEMs), particularly those that present in neonates, but initial presentation of IEM even in adults may result in death. (medscape.com)
Inborn errors of metabolism (IEMs) can affect any organ system and usually affect multiple organ systems resulting in morbidity due to acute and/or chronic organ dysfunction. (medscape.com)
Many inborn errors of metabolism (IEMs) have multiple forms that differ in their mode of inheritance. (medscape.com)
A dramatic decrease in the use of aspirin among children, in combination with the identification of medication reactions, toxins, and inborn errors of metabolism (IEMs) that present with Reye syndrome-like manifestations, have made the diagnosis of Reye syndrome exceedingly rare. (medscape.com)
Early recognition and treatment of Reye and Reye-like syndromes, including presumptive treatment for possible IEM (See Inborn Errors of Metabolism ) is essential to prevent death and optimize the likelihood of recovery without neurologic impairment. (medscape.com)
Hundreds of disorders exist, and although most inherited disorders of metabolism are extremely rare individually, collectively they are not rare. (msdmanuals.com)
Галактоземія Galactosemia is a carbohydrate metabolism disorder caused by inherited deficiencies in enzymes that convert galactose to glucose. (msdmanuals.com)
Urea is the end product of protein metabolism (amino acid metabolism). (slimwithlynne.com)
The vitamin that is a coenzyme in amino acid and nucleic acid metabolism is. (slimwithlynne.com)
Disorders that affect the metabolism of amino acids include phenylketonuria, tyrosinemia, homocystinuria, non-ketotic … Essential and nonessential amino acids are degraded to products that can be metabolized for energy. (slimwithlynne.com)
Protein metabolism is more appropriately learnt as metabolism of amino acids. (slimwithlynne.com)
The liver is the major site of amino acid metabolism in the body and the major site of urea synthesis. (slimwithlynne.com)
Amino acid metabolism has extremely extensive effects in cancer cells, including, but not limited to, (1) establishing amino acid pools as building blocks, especially the production of non-essential amino acids … An overview of the metabolism of the sulfur amino acids is depicted in Fig. The outline of glycine metabolism is depicted in Fig. Oxidation via TCA cycle to produce energy (about 10-15% of body needs). (slimwithlynne.com)
Start studying BIOCHEMISTRY: Amino Acid Metabolism. (slimwithlynne.com)
Asparagine (Asn) is a central intermediate in amino acid metabolism and an important form of stored or transported nitrogen (N) in higher plants. (pinnacleclinic.com)
As the substrate for other amino acids such as cysteine and taurine, versatile compounds such as SAM-e, and the important antioxidant glutathione, methionine plays a critical role in the metabolism and health of many species, including humans. (pinnacleclinic.com)
Conflicting results have also been reported [ 15 ], however, and a direct molecular link between amino acid metabolism and mental disorders/affective status has not been well established. (biomedcentral.com)
Pharmacologic doses of vitamin B 6 are used to treat seizures in rare inborn errors of vitamin B 6 metabolism. (oregonstate.edu)
The many biochemical reactions catalyzed by PLP-dependent enzymes are involved in essential biological processes, such as hemoglobin and amino acid biosynthesis, as well as fatty acid metabolism . (oregonstate.edu)
Carnitine is an important small water-soluble molecule that binds to long-chain fatty acids and facilitates their transport across the inner mitochondrial membrane and into the mitochondrial matrix to undergo fatty acid oxidation (metabolism). (medscape.com)
Carbohydrate metabolism, inborn errors refer to genetic disorders that affect the body's ability to properly process carbohydrates, leading to various metabolic disorders. (lookformedical.com)
Figure 17.1 illustrates the metabolic processes involved in the overall metabolism of carbohydrates, fats and protein including the catabolic processes to produce energy and urea (the product of the detoxification of the nitrogen moiety of amino acids) and anabolic processes to form tissue protein and energy stores, glycogen and lipids. (oncohemakey.com)
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. (nih.gov)
Methylmalonic aciduria and homocystinuria of cblC type is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al. (nih.gov)
The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). (beds.ac.uk)
That autism seemingly appears alongside a long list of other conditions including quite a few of the various inborn errors of metabolism ( see here and see here ) substantiates the idea that a singular labels says very little about the 'essence' of autism. (blogspot.com)
An inborn error of metabolism is suspected as the cause of this patient's symptoms. (osmosis.org)

A metabolic disorder is any disease or disorder that negatively affects the biochemical reactions through which individual animal cells process nutrient molecules (such as the components of carbohydrates , proteins , and fats ) to yield energy or perform the functions necessary to sustain life (such as building complex molecules and creating cellular structure). (newworldencyclopedia.org)
or anabolic - the building up (synthesis) of compounds (such as proteins, carbohydrates, lipids, and nucleic acids). (wikipedia.org)
Proteins are made of amino acids arranged in a linear chain joined by peptide bonds. (wikipedia.org)
Proteins are also important in cell signaling, immune responses, cell adhesion, active transport across membranes, and the cell cycle. (wikipedia.org)
The advent of high throughput -omics has made the accumulation of comprehensive data sets possible, consisting of changes in genes, transcripts, proteins and metabolites. (mdpi.com)
Amino acids are used for the synthesis of proteins and other nitrogen-containing compounds, or their carbon skeletons are oxidized for energy or the synthesis of glucose. (slimwithlynne.com)
An adult man breaks down approximately 300-500 g of proteins to amino acids per day, this event is called as proteolysis. (slimwithlynne.com)
During some "chronic stresses" cellular proteins are degraded to provide amino acids for functions that help alleviate the stress (see "Hypothelamic-Pituitary-Adrenal Axis" below). (slimwithlynne.com)
The essential amino acids are derived from proteins that are broken down into amino acids during the digestion process. (slimwithlynne.com)
cells and tissues have continuous access to individual amino acids for the synthesis of proteins and essential amino acid derivatives. (slimwithlynne.com)
Share Your Word File Amino acids are produced by digestion of dietary proteins in the intestines, absorbed through the intestinal epithelial cells, and enter the blood. (slimwithlynne.com)
is an ɑ-amino acid that is used in the biosynthesis of proteins. (pinnacleclinic.com)
Aspartic acid, is an α-amino acid that is used in the biosynthesis of proteins. (pinnacleclinic.com)
Phenylalanine is an amino acid found in many foods and used by your body to produce proteins and other important molecules. (pinnacleclinic.com)
Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. (pinnacleclinic.com)
Any of the enzymatically catalyzed modifications of the individual AMINO ACIDS of PROTEINS, and enzymatic cleavage or crosslinking of peptide chains that occur pre-translationally (on the amino acid component of AMINO ACYL TRNA), co-translationally (during the process of GENETIC TRANSLATION), or after translation is completed (POST-TRANSLATIONAL PROTEIN PROCESSING). (lookformedical.com)
Vegetable is an immense store of active chemical compounds and considered as the cheapest and most easily available sources of carbohydrate, fiber, proteins, vitamins, minerals and amino acids. (scialert.net)
In this slow-flow compartment, blood plasma comes into direct contact with the hepatocytes' microvilli, which are packed with transport proteins. (helmberg.at)
Now, amino acids are the basic building blocks that make up proteins. (osmosis.org)
So the proteins you eat are broken down into amino acids in the gastrointestinal tract by gastric acid and digestive enzymes. (osmosis.org)

Most of the disorders are inherited as autosomal recessive, whereas autosomal dominant and X-linked disorders are also present. (medscape.com)
Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. (nih.gov)
Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. (lookformedical.com)
Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydoxybutyric aciduria or gamma-hydoxybutyric aciduria , is a rare autosomal recessive disorder [1] of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid , or GABA . (wikidoc.org)
Familial homocystinuria is an autosomal recessive genetic disorder that first manifests early in life. (osmosis.org)

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (lookformedical.com)

MCM resides in the mitochondria, where a number of substances, including the branched-chain amino acids isoleucine and valine, as well as methionine, threonine, thymine and odd-chain fatty acids, are metabolized via methylmalonate semialdehyde (MMlSA) or propionyl-CoA (Pr-CoA) to a common compound - methylmalonyl-CoA (MMl-CoA). (wikipedia.org)
As an important step in propionate catabolism, this reaction is required for the degradation of odd-chain fatty acids, the amino acids valine, isoleucine, methionine, and threonine, and cholesterol, funneling metabolites from the breakdown of these amino acids into the tricarboxylic acid cycle. (wikipedia.org)
Methylmalonyl-CoA mutase catalyzes the following reaction: The substrate of methylmalonyl-CoA mutase, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism and digestion of isoleucine, valine, threonine, methionine, thymine, cholesterol, or odd-chain fatty acids. (wikipedia.org)
Out of the twenty standard protein-producing amino acids… The principal fates of the essential amino acid methionine are incorporation into polypeptide chains, and use in the production of cysteine and α-ketobutyrate via the reaction pathway involving the … During fasting these carbons are converted to glucose in the liver and kidney, or to ketone bodies in the liver. (slimwithlynne.com)
Methionine is an essential amino acid in humans. (pinnacleclinic.com)
In homocystinuria , "homocysteine" is a metabolite of the amino acid methionine, and "uria" means, a substance present in urine. (osmosis.org)
Methionine is one of the essential amino acids, meaning our bodies can't create it, but they must be acquired through food that's rich in protein like meat, eggs, dairy, avocados, beans, etc. (osmosis.org)
Now methionine is also used to synthesize another amino acid, cysteine. (osmosis.org)
First, methionine is converted into the amino acid homocysteine through multiple steps. (osmosis.org)

Disorders that affect electrolytes and glucose homeostasis can result in neuromuscular dysfunction, resulting in weakness. (vin.com)
Glucose enters nervous tissue by non-insulin dependent transport mechanisms. (vin.com)
Increased transport of alanine into the liver, promoted by glucagon, helps the body dispose of the excess nitrogen, and supplies the liver with carbon skeletons for glucose synthesis - the alanine / glucose cycle (see "AA Flux" in the top menu). (slimwithlynne.com)
PLP is also a coenzyme for reactions that generate glucose from amino acids, a process known as gluconeogenesis (6) . (oregonstate.edu)
Part of the glucose absorbed in the intestine is transported into the hepatocytes with the help of the insulin-independent transporter GLUT2 (KM 15-20 mM). (helmberg.at)
Carbohydrates, as monosaccharides (glucose, fructose, galactose), are absorbed in the intestine and then transported to the liver where excess glucose, galactose and fructose are converted to glucose-6-phosphate (G-6-PO 4 ). (oncohemakey.com)
Since the body can't store these amino acids, any excess amino acids are converted into glucose or ketones and used for energy. (osmosis.org)

Goals of treatment for patients with IEMs are prevention of further accumulation of harmful substances, correction of metabolic abnormalities, and elimination of toxic metabolites. (medscape.com)

The remaining 10 common amino acids - the Essential AMino Acids - must be taken in the diet. (slimwithlynne.com)

Dietary protein is broken down into 20 individual amino acids for absorption. (oncohemakey.com)

An essential amino acid is an amino acid that is required by an organism but cannot be synthesized de novo by it, and therefore must be supplied in its diet. (slimwithlynne.com)
The dietary requirement for niacin and the niacin coenzyme , nicotinamide adenine dinucleotide (NAD), can be also met, though to a fairly limited extent, by the catabolism of the essential amino acid tryptophan in the tryptophan-kynurenine pathway ( Figure 2 ). (oregonstate.edu)

a glycerol molecule attached to three fatty acids by ester linkages is called a triacylglyceride. (wikipedia.org)
G-6-PO 4 can also be produced via pyruvate from protein catabolism of glucogenic amino acids ( Table 17.1 ) or breakdown of glycerol from lipids (gluconeogenesis). (oncohemakey.com)
Dietary fat is present mainly as long chain triglycerides, comprising a glycerol backbone and fatty acids. (oncohemakey.com)
Dietary fats, and lipids produced endogenously from acetyl-CoA, are initially hydrolysed by lipases into glycerol and free fatty acids. (oncohemakey.com)

Most of the structures that make up animals, plants and microbes are made from four basic classes of molecules: amino acids, carbohydrates, nucleic acid and lipids (often called fats). (wikipedia.org)
An examination of the nucleic acid sequence alignment of 48 full-length rubella virus genomes revealed that the 5' terminus of the genome is more conserved than the commonly used detection windows for rubella virus RNA located in the E1 protein coding region, suggesting that the 5' terminus could be a target for improving detection of all rubella virus genotypes. (cdc.gov)

Tryptophan contains an α-amino group, an α-carboxylic acid group, and a side chain indole, making it a non-polar aromatic amino acid. (pinnacleclinic.com)
serotonin from the amino acid tryptophan and dopamine from L-3,4-dihydroxyphenylalanine (L-Dopa). (oregonstate.edu)

By comparing the reconstructed genomes of uncultivated species versus those that have been cultivated, the team found that uncultivated species' genomes are roughly 20 percent smaller, on average, and are missing numerous pathways for biosynthesis of fatty acids, amino acids, and vitamins. (regenerativemedicine.net)

This is one of the major degradation pathways which convert essential amino acids to non-essential amino acids. (pinnacleclinic.com)
To produce energy G-6-PO 4 (derived from monosaccharides from dietary CHO or produced from glycogen degradation by glycogenolysis) is converted by a series of enzyme reactions in the glycolytic pathway to form pyruvate or lactic acid, then to acetyl-CoA, which is also produced from fatty acid oxidation and degradation of the carbon skeleton of glucogenic amino acids ( Table 17.1 ). (oncohemakey.com)
However, because of the deficiency, the final intermediate of the GABA degradation pathway, succinic semialdehyde, accumulates and cannot be oxidized to succinic acid and is therefore reduced to gamma-hydroxybutyric acid (GHB) by gamma-hydroxybutyric dehydrogenase. (wikidoc.org)

Tyrosine is an amino acid that is naturally produced in the body from another amino acid called phenylalanine. (pinnacleclinic.com)

Most are due to a defect in an enzyme or transport protein, which results in a block in a metabolic pathway. (medscape.com)
This pathway is responsible for the deamination of most amino acids. (pinnacleclinic.com)
Although nutrients, including amino acids and their metabolites such as serotonin (5-HT), are strong modulators of anxiety-related behavior, the metabolic pathway(s) responsible for this physiological modulation is not fully understood. (biomedcentral.com)
One pathway leads to very good metabolites, called 2-hydroxy estrogens. (naturalscience.com)
The other pathway leads to bad metabolites called 4 or 16-hydroxy estrogens. (naturalscience.com)

Upon entry to the mitochondria, the 32 amino acid mitochondrial leader sequence at the N-terminus of the protein is cleaved, forming the fully processed monomer. (wikipedia.org)
Acetyl-CoA enters the Krebs cycle, also known as the citric acid or tricarboxylic (TCA) cycle, within the mitochondria. (oncohemakey.com)
Fatty acids enter the mitochondria via the carnitine transport cycle (medium chain fatty acids enter independently of carnitine) into the β-oxidation spiral in which fatty acids, via a series of enzymes, produce acetyl-CoA and electron carriers. (oncohemakey.com)

The pathogenesis of Reye syndrome, while not precisely elucidated, appears to involve mitochondrial injury resulting in dysfunction that disrupts oxidative phosphorylation and fatty-acid beta-oxidation in a virus-infected, sensitized host potentially with an underlying occult inborn error of fatty acid oxidation, urea cycle or mitochondrial disorder. (medscape.com)

NBS started in just a few states screening for a single disorder - phenylketonuria - and has grown to a core panel of 37 conditions. (cdc.gov)

Excess nitrogen derived from the increased amino acid pool must be disposed of, first by transport to the liver, in large part as alanine, and then converted, in the liver, to urea for excretion. (slimwithlynne.com)
Nitrogen must be removed before the carbon skeletons of amino acids are oxidized. (slimwithlynne.com)
The key elements of an amino acid are carbon, hydrogen, oxygen, and nitrogen, although other elements are found in the side chains of certain amino acids. (pinnacleclinic.com)

Metabolic disorders typically result when an enzyme necessary for some step in a metabolic process is missing or improperly constructed due to a genetic defect. (newworldencyclopedia.org)
In some genetic disorders, personal and social responsibility can play a role. (newworldencyclopedia.org)
These recommendations are intended for laboratories that perform biochemical genetic testing to improve the quality of laboratory services and for newborn screening laboratories to ensure the quality of laboratory practices for inherited metabolic disorders. (cdc.gov)
Mitochondrial disorders describe a broad range of disorders that have multiple genetic causes and variable symptoms and signs. (medlink.com)
The named and biochemical disorders may or may not have been caused by their initially described genetic variation, but potentially by other gene variations. (medlink.com)

A test tube study suggested that anticonvulsants might lower biotin levels by interfering with the way biotin is transported in the intestine. (epnet.com)
The amino acids are then absorbed by the small intestine into the bloodstream, and then travel to the cells of the body , where they are used for protein synthesis. (osmosis.org)

Catabolism is the breakdown of large complex molecules to provide energy for cellular activity and smaller compounds, e.g. amino acids, needed for anabolic reactions or for elimination from the body. (oncohemakey.com)

The product of the enzyme, succinyl-CoA, is a key molecule of the tricarboxylic acid cycle. (wikipedia.org)

The substrate, L-methylmalonyl-CoA hydrolyzes to form methylmalonate (methylmalonic acid), a neurotoxic dicarboxylic acid that, due to the poor dicarboxylic acid transport capacities of the blood-brain barrier, is effectively trapped within the CNS, leading to neurological debilitation. (wikipedia.org)

Categorizing and describing a mitochondrial disorder is complicated in part because there are 3 ways to do so. (medlink.com)

A reduction in PLP availability appears to primarily affect kynureninase activity, limiting NAD production and leading to higher concentrations of kynurenine, 3-hydroxykynurenine, and xanthurenic acid in blood and urine ( Figure 2 ) (9) . (oregonstate.edu)
Analysis of urine organic acids, serum amino acids, and acylcarnitine panels can be used to distinguish this condition from other causes of carnitine deficiency. (medscape.com)

The carbon skeleton of the amino acids is first converted to keto acids (by transamination) which meet one or more of the following fates: 3. (slimwithlynne.com)
Transamination, a chemical reaction that transfers an amino group to a ketoacid to form new amino acids. (pinnacleclinic.com)
GABA is metabolized by successive transamination and oxidation to yield succinic semialdehyde and succinic acid respectively via the catalyzing effects of GABA transaminase . (wikidoc.org)

Using relatively simple tests involving the detection of amino acids and acylcarnitines in dried blood spots on filter paper, Tandem Mass Spectrometry (TMS) allows for rapid screening and diagnosis of more than 40 metabolic disorders in amino acids, organic acids, and fatty acid oxidation, substantially improving the efficiency and accuracy of early diagnosis [ 5 , 6 ]. (alliedacademies.org)

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. (lookformedical.com)

Creatine (N-(aminoiminomethyl-N-methyl glycine) is an important amino acid based metabolite produced in the kidneys, liver and pancreas and used by the muscle in the production of energy [ 1-3 ]. (oatext.com)
Other neurotransmitters, including glycine, D-serine, glutamate, histamine, and γ-aminobutyric acid (GABA), are also synthesized in reactions catalyzed by PLP-dependent enzymes (7) . (oregonstate.edu)

A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation. (lookformedical.com)
1) Antibody deficiency disorders are defects in immunoglobulin-producing B cells . (lu.se)

The incidence of PIDs varies greatly from about 1:500 births with selective IgA deficiency to only a few known cases for the rarest disorders. (lu.se)
In certain metabolic disorders ( ADA and PNP deficiency) enzyme substitution therapy can be applied. (lu.se)
For all individuals with OTC deficiency, typical neuropsychological complications include developmental delay, learning disabilities, intellectual disability, attention-deficit/hyperactivity disorder, and executive function deficits. (beds.ac.uk)

For example, the set of carboxylic acids that are best known as the intermediates in the citric acid cycle are present in all known organisms, being found in species as diverse as the unicellular bacterium Escherichia coli and huge multicellular organisms like elephants. (wikipedia.org)
Similar to all other amino acids it contains an amino group and a carboxylic acid. (pinnacleclinic.com)

These biochemical reactions frequently involve cofactors, often vitamins, which help the specific enzyme function, e.g. vitamin B 6 is the cofactor for the enzyme cystathionine β synthase which converts the amino acid homocysteine into cystathionine. (oncohemakey.com)

The disorder is fatal without treatment, but supplementation with oral carnitine results in elevated carnitine levels and prevents progression of the disease. (medscape.com)

The amino acid glutamine is converted to glutamate in the body. (epnet.com)
Because anticonvulsants work (at least in part) by blocking glutamate pathways in the brain, high dosages of the amino acid glutamine might theoretically diminish an anticonvulsant's effect and increase the risk of seizures. (epnet.com)
GABA is synthesized in a single step from its precursor glutamate by glutamic acid decarboxylase . (wikidoc.org)

In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. (alliedacademies.org)
Amino acids are organic compounds that contain amine and carboxyl functional groups, along with a side chain specific to each amino acid. (pinnacleclinic.com)

Then biochemical assays such as oxidative phosphorylation activity by respiratory chain enzymes were used to characterize enzyme disorders (eg, complex 1 or complex 3 deficiencies). (medlink.com)

This results from the inability to oxidize fatty acids and generate ketones to provide energy during catabolic states. (medscape.com)

Both directly and via its various metabolites, chronic alcohol exposure has been found to cause significant inhibition in both SMVT biotin uptake of the microbiota-generated biotin, and the degree of expression of SMVT. (medicationsandnutrition.online)
At present, almost every third person in the society is under stress and having chronic disorders like diabetes, arthritis, allergy, cardiovascular disease, fatigue and even cancer. (scialert.net)
Four wild-type (drug-sensitive) human breast cancer cell lines (MCF-7, T47D,MDA-MB-231, MDA-MB-435) were used to evaluate the influence of acute and chronic exposure to ceramide and ceramide metabolites on MDR1 mRNA,P-gp, and resistance to chemotherapeutic agents. (sphingolipidclub.com)
These data are the first evidence that chronic exposure to ceramide and its metabolites enhances expression of the MDR phenotype in cancer cells. (sphingolipidclub.com)

Even people with a more severe neurological disorder may find dietary modification provides a benefit. (epiphanyasd.com)
This causes elevations in GHB and is believed to be the trademark of this disorder and cause for the neurological manifestations seen. (wikidoc.org)

Given the number of metabolic disorders and the range of systems affected, these disorders are manifested in a wide array of symptoms of varying severity, ranging from recurrent vomiting, lethargy, and muscle weakness, to liver and heart failure, developmental delay, and mental retardation. (newworldencyclopedia.org)
Most common reason for referral was metabolic encephalopathy, followed by global developmental delay and seizure disorder with less common being hypoglycemia, hepatic failure etc. (alliedacademies.org)

PLP functions as a coenzyme of 5-aminolevulinic acid synthase, which is involved in the synthesis of heme , an iron -containing component of hemoglobin . (oregonstate.edu)
The electron transport chain consists of 4 multimeric complexes (I to IV) plus 2 small electron carriers, coenzyme Q10 (or ubiquinone) and cytochrome c . (medlink.com)

an enzyme defective within a particular organ or tissue, such as the liver , muscle , or brain , might lead to low energy production or prevent transport to the part of the body requiring energy. (newworldencyclopedia.org)
6. The liver is the major site of amino acid oxidation, but most tissues can oxidize the branched chain amino acids (i.e., leucine, isoleucine, valine). (slimwithlynne.com)

The big mistake is to think that all you can/need to do to treat disorders like autism is modify diet and pop a few vitamins and supplements. (epiphanyasd.com)

After reminding the reader of the basic concepts of mitochondrial genetics, she offers examples of disorders due to mutations in mitochondrial DNA and mutations in nuclear DNA. (medlink.com)

Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. (nih.gov)
It is unclear whether decreased levels of GABA or elevated levels of GHB are responsible for these seizures but alterations in these neurotransmitters and their receptor binding or neurotransmitter transport is hypothesized to play a role in the pathogenesis of the seizures in this population. (wikidoc.org)

Diseases1

Chemicals and Drugs6

Phenomena and Processes2

Metabolism45

Proteins20

Autosomal5

Errors1

Methionine9

Glucose7

IEMs1

Common amino acids1

Individual amino acids1

Essential amin2

Glycerol4

Nucleic acid2

Tryptophan2

Biosynthesis1

Degradation3

Another amino acid1

Pathway5

Mitochondria3

Urea cycle1

Phenylketonuria1

Nitrogen3

Genetic5

Intestine2

Catabolism1

Tricarboxylic1

Substrate1

Mitochondrial disorder1

Urine2

Transamination3

Fatty acid1

Carbohydrate1

Glycine2

Defects2

Deficiency3

Carboxylic2

Reactions1

Carnitine1

Glutamate3

Compounds2

Biochemical1

Catabolic1

Chronic4

Neurological2

Developmental delay2

Coenzyme2

Liver2

Vitamins1

Mutations1

Seizures2