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9,421 Possible Causes for Acid, Amino, Metabolism, Pathway

Did you mean: acne, aging, Metabolism, Pathway

  • Tyrosinemia

    The enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) catalyzes the reaction of 4-hydroxyphenylpyruvic acid to homogentisic acid in the tyrosine catabolism pathway.[] We used a modified comet assay to determine the effect of these metabolites on base- and nucleotide excision repair pathways.[] Firstly, we aimed to calculate how the plasma amino acid profile in HT1 patients may influence the presumptive brain influx of all large neutral amino acids (LNAA).[] However, the tyrosine metabolic pathway was intact. Unique findings include optic atrophy, cerebellar degeneration, and exocrine pancreatic hypoplasia.[]

  • Metabolic Disorder of Amino Acids

    Tyrosine is a polar nonessential amino acid that is coded by UAC or UAU. It is caused by the deficiency of enzymes that break down the amino acid (Lehninger, 2008).[] And that regulation of gut amino acids metabolism pathway may be a possible way to intervene the progression of CKD. Copyright 2017 Elsevier B.V. All rights reserved.[] Figure 44-4 The phenylalanine hydroxylase (PAH) pathway.[] Amino Acid Metabolism Altered Amino Acid Metabolites in Aging Non-Labeled Amino Acid Metabolites Stable Isotope-Labeled Amino Acid Metabolites Metabolite Libraries New Metabolites[]

  • Homocystinuria

    The accumulation of toxic metabolites in organic acidurias, respiratory chain, and fatty acid oxidation disorders inhibits mitochondrial enzymes and processes resulting in[] Additionally, apoptosis appears to be mainly triggered through the extrinsic pathway in cblC, while the intrinsic pathway was primarily activated in cblB cells.[] The relationship between variability and the underlying metabolic processes or compliance has not yet been completely ascertained.[] Deficiency, methylenetetrahydrofolate reductase Disorder of sulfur-bearing amino acid metabolism Disorder of sulphur bearing amino acid metabolism Heterozygous methylenetetrahydrofolate[]

  • Maple Syrup Urine Disease

    For each amino acid a total of 34 data pairs was calculated.[] metabolism.[] Abstract Maple syrup urine disease (MSUD) is a metabolic disorder due to a block in the decarboxylation step in the catabolic pathways of the branched-chain amino acids (BCAAs[] Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs:[]

  • Propionic Acidemia

    […] propionyl-CoA carboxylase deficiency and distinct amino acid behavior.[] Abstract Two abnormal metabolites, 3-keto-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid, have been identified and quantitated in the urine of a child with propionic[] Clinical and biochemical data of patients from 16 metabolic centers in Germany, Austria, and Switzerland were evaluated retrospectively.[] Homocitrullinuria, presence of epsilon-N-acetyl-l-lysine in urine, and absence of saccharopine indicate deficiency of the saccharopine pathway of lysine degradation.[]

  • Intermediate Maple Syrup Urine Disease

    Treatment of MSUD aims to normalize the concentration of BCAA by dietary restriction of these amino acids.[] […] insight into the problems associated with metabolic diseases.[] The KEGG-Pathway shown in Figure 4 gives a detailed overview of BCKDHA's role in the degradation of branched chain amino acids.[] As other essential amino acids are important for normal growth and development, the patient requires formula milk or amino acid powder.[]

  • Isovaleric Acidemia

    OBJECTIVE: To determine the effect of the previously identified amino-acid conjugates and conventional dietary protein restriction therapy, on the free amino-acid concentrations[] This enzymatic deficiency leads to severe metabolic derangement, manifested clinically as vomiting, dehydration, and acidosis progressing to seizures, coma, and death.[] Journal Am J Hum Genet 75:1136-42 (2004) DOI: 10.1086/426318 » Japanese version All links Ontology (1) KEGG BRITE (1) Pathway (2) KEGG PATHWAY (2) Drug (1) KEGG DRUG (1) Gene[] Silva Drug Metabolism and Disposition July 2011, 39 (7) 1155-1160; DOI: Abstract Many biological systems including the oxidative catabolic pathway for branched-chain amino[]

  • Disorder of Ornithine Metabolism

    Many amino acid and organic acid disorders are associated with spongy myelinopathy (SM).[] The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and[] […] ornithine • Disorder metabolism NOS ornithine • Disorder ornithine metabolism • Disorder urea cycle metabolism ornithine transcarbamylase deficiency • Disturbance metabolism[] , there is a new chapter on neonatal screening, including tandem MS/MS, and several new disorders have been included, for example defects involving the pentose phosphate pathway[]

  • Hawkinsinuria

    The tolerance toward these amino acids normalizes as the patients get older.[] An infant in this family presented with metabolic acidosis and excreted quinolacetic acid and pyroglutamic acid in the urine together with the tyrosine derived phenolic acids[] […] write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders.[] Synonyms: exact_synonym: hawkinsinuria disease pathway related_synonym: SMP:00190 show annotations for term's descendants view all columns Sort by: hawkinsinuria pathway G[]

  • Phenylketonuria

    The aim of the present study was to examine trace elements (Zn, Cu, Mn, Se, Fe, Co, Cr, Ni, Cd, Pb), minerals (Ca, Mg, K), amino acids status in children with phenylketonuria[] Folic acid serum concentrations and intake were elevated.[] Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH).[] Research is needed to understand how metabolism of Trp via the kynurenine pathway and changes in the intestinal microbiota affect health for individuals with PKU.[]