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83 Possible Causes for L lysine, acetylation, by, degradation, glutarate,, to

  • Glutaric Aciduria

    MRS showed decreased N-acetyl-aspartate/creatine ratio at the basal ganglia in encephalopathic patients when compared to a group of sex- and age-matched controls.[ncbi.nlm.nih.gov] The clinical diagnosis of glutaric aciduria type I was confirmed by elevation of 3-hydroxyglutaric and glutaric acids.[ncbi.nlm.nih.gov] […] steps Tryptophan degradation through eight steps 17 Degradation 18 Degradation Inefficient/ Absent Intermediate Crotonyl-CoA will then produce two molecules of acetyl-CoA[powershow.com] The primary defect is the deficiency of Glutaryl-CoA dehydrogenase (EC number 1.3.99.7) enzyme that is involved in the catabolic pathways of the amino acids l-lysine, l-hydroxylysine[ncbi.nlm.nih.gov] Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan[ncbi.nlm.nih.gov] I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine[ncbi.nlm.nih.gov]

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  • 2-Aminoadipic 2-Oxoadipic Aciduria

    […] type II L-2-hydrxoglutaric aciduria Canavan Disease Glutaric acid Glutaconyl coenzyme A 3-Hydroxyglutaric acid FAD TCA cycle NADPH IDH2 D-2-hydroxyglutarate dehydrogenase Acetyl[wikipathways.org] Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. ‏[books.google.com] […] the enzyme mediating the last unresolved step in the L-lysine-degradation pathway.[ncbi.nlm.nih.gov] Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. ‎[books.google.ro] DHTKD1 is located one enzymatic step above glutaryl-CoA dehydrogenase in the lysine degradative pathway.[ncbi.nlm.nih.gov] Degradation of lysine through either pathway leads to the formation of α-aminoadipic semialdehyde, which is catabolized to acetyl-coenzyme A (CoA) and enters the tricarboxylic[accesspediatrics.mhmedical.com]

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  • Ketoadipicaciduria

    The main catabolic pathway for Lysine, via Saccharopine (e-N-(L-Glutaryl-2)-L-lysine), is a mitochondrial pathway leading to the formation of Acetyl-CoA (Acetyl-Coenzyme-A[qiagen.com] Urine organic acid analysis by gas chromatography ass spectrometry usually reveals glutaric and 3-hydroxyglutaric acids.[adc.bmj.com] Abstract Abstract 2-Ketoadipic acid, an intermediate in the metabolism of L-lysine, hydroxy-L-lysine, and L-tryptophan, undergoes successive oxidative decarboxylations by[ommbid.mhmedical.com] In the matrix of mitochondria, 2-oxoadipate is decarboxylated to glutaryl-CoA by the 2-oxoadipate dehydrogenase complex and then converted to acetyl-CoA. 2-Oxoadipic aciduria[phid.ditad.org] (S)-3-hydroxy-3-methylglutaryl-CoA acetyl-CoA acetoacetate Mevalonic Aciduria ( Mevalonaat Acidurie ) Synoniemen: Mevalonate Kinase Deficiency OMIM: 251170 OMIM: Clinical[home.kpn.nl] Loading with L-lysine and L-tryptophan both increased the concentration of alpha-aminoadipic acid in blood and urine compatible with the primary deficiency of alpha-ketoadipate[pubmed.cn]

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  • Carnitine

    , l-carnitine acetyl ester, acetylcarnitine.[ncbi.nlm.nih.gov] Aminoacidopathies (eg, isovaleric acidemia, propionic acidemia, methylmalonic acidemia, glutaric acidemia type I, 3-hydroxymethylglutaryl-CoA lyase deficiency) also contribute[emedicine.medscape.com] Acetyl L-Carnitine is an acetylated form of L-Carnitine, a nitrogen-containing compound derived from L-Lysine.[truenutrition.com] Before HIIT, muscle phosphocreatine (PCr) degradation (P 2max , Watt max , and work output were similarly increased in CON and CARN, by 9, 15, and 23% (P 2017 John Wiley &[ncbi.nlm.nih.gov] View Article Google Scholar Yannicelli S, Rohr F, Warman ML: Nutrition support for glutaric acidemia type I.[doi.org] […] is a wáter-soluble compound that humans may obtain both by food ingestion and endogenous synthesis from trimethyl-lysine.[ncbi.nlm.nih.gov]

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  • Acetyl-CoA Carboxylase Deficiency

    An important gene associated with Acetyl-Coa Carboxylase Deficiency is ACACA (Acetyl-CoA Carboxylase Alpha).[malacards.org] Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity 268 PelizaeusMerzbacher Disease and Xlinked Spastic Paraplegia Type 2 272 18q Syndrome 281 Phenylketonuria 284 Glutaric[books.google.com] […] and elongation of fatty acids in mammals 85 Chapter 5 Fatty acid oxidation and its regulation 113 Chapter 6 Fatty acid biosynthesis in higher plants 155 Chapter 7 Lipid degradation[books.google.com] […] dipeptidase Deficiency of L-serine dehydratase Deficiency of lyase Deficiency of lysine racemase Deficiency of lysine-tRNA ligase Deficiency of lysolecithin acylmutase Deficiency[icd9data.com] Glutaric acidemia type II Glutaric acidemia type II is a disorder of the mitochondrial electron transfer flavoprotein system.[pediatricneuro.com] All thiolases, whether they are biosynthetic or degradative in vivo, preferentially catalyze the degradation of 3-ketoacyl-CoA to form acetyl-CoA and a shortened acyl-CoA[en.wikipedia.org]

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  • Cytosolic Acetoacetyl-CoA Thiolase Deficiency

    […] acidaemia - 3-Methylhydroxybutyric acidemia - Deficiency of acetyl-coenzyme A acetyltransferase - Deficiency of acetyl-coenzyme A acetyltransferase (disorder) Hide descriptions[snomedbrowser.com] Aciduria Type 1 GA1 Glutaric Aciduria Type 2 GA2 / MADD / Multiple-acyl-CoA Dehydrogenase Deficiency Glutaryl CoA Oxidase Deficiency Glutathione Sythetase Deficiency Glutathionuria[climb.org.uk] Each thiolase catalyzes this reaction in both directions, but the equilibrium is far much favoring the degradative direction (K eq is 10 5 , favoring the degradation).[proteopedia.org] Deficiency of lyase Deficiency of lysine-tRNA ligase Deficiency of lysolecithin acylmutase Deficiency of lysophospholipase Deficiency of lysozyme Deficiency of malate dehydrogenase[icdlist.com] Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2. Mol Genet Metab. 94(1):61-67, 2008 61. Fukao T , Boneh A, Aoki Y, Kondo N.[ketone.jp] CoA Thiolase, Acetoacetyl; C- Acetyltransferase, Acetyl- CoA; Acetyltransferase, Acetyl- CoA; Acetyl CoA C Acetyltransferase; Acetyl CoA Acetyltransferase Substance CAS Registry[reference.md]

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  • Glutaric Aciduria Type 2

    Acetyl‐CoA production is impaired and gluconeogenesis is unable to maintain plasma glucose during the stress.[academic.oup.com] Mutations in the ETFA, ETFB, and ETFDH genes cause glutaric acidemia type II.[en.wikipedia.org] […] younger age Glycolate (83, 84) Ethylene glycol poisoning Glyoxylate 2-Hydroxyadipate (85) 3-Hydroxyglutarate (85) 2-Ketoadipate (85) Glutarate (18, 19, 85-87) 2-Ketoglutarate degradation[medical-dictionary.thefreedictionary.com] Histidine (L-Histidine) Serine Analogues Leucine (L-Leucine) Proline(L-Proline) Valine Isoleucine(L-Isoleucine) Alanine Threonine Methionine Analogues Cystine(L-Cystine)[webmd.com] This enzyme catalyzes the dehydro- genation-decarboxylation of Glutaric acid in the degradation pathway of lysine, hydroxy-lysine and tryptophan(2).[ijp.mums.ac.ir] […] aciduria type 1 (GA-1) is an autosomal recessive disorder caused by deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation[jpma.org.pk]

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  • Organic Aciduria

    Moreover, carglumic acid has been used in humans in the treatment of N-acetyl-glutamate-synthase deficiency with no major side effects [ 7 ].[ojrd.biomedcentral.com] Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria.[ncbi.nlm.nih.gov] […] is defective in the leucine degradative pathway.IncidenceWhile each individual disorder is rare, overall incidence of organic acidemias is 1:20, 000.[journals.sbmu.ac.ir] Glutaric aciduria type I is caused by inherited deficiency of glutaryl‐CoA dehydrogenase which is involved in the catabolic pathways of Llysine, L‐hydroxylysine and L‐tryptophan[doi.org] This results in a deficiency of acetyl CoA, the substrate for oxidative phosphorylation and an important regulator of the urea cycle.[oaanews.org] Since both scavengers are esterified with CoA, they could cause acetyl-CoA depletion, resulting in mitochondrial dysfunction[ 125 ] and decreased NAG synthesis.[doi.org]

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  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency

    External links Short descriptions of genetic disorders from wadsworth.org v Inborn error of amino acid metabolism ( E70–E72 , 270 ) K acetyl-CoA Lysine /straight chain Glutaric[wiki30.com] […] dipeptidase • Deficiency of L-serine dehydratase • Deficiency of lyase • Deficiency of lysine racemase • Deficiency of lysine-tRNA ligase • Deficiency of lysolecithin acylmutase[coding-pro.com] 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino[ncbi.nlm.nih.gov] […] acetyltransferase Deficiency of acetyl-CoA acylase Deficiency of acetyl-CoA acyltransferase Deficiency of acetyl-CoA deacylase Deficiency of acetyl-CoA hydrolase Deficiency[icd9data.com] […] aciduria Glutaric aciduria type II Glutaric aciduria type I Mevalonate kinase deficiency Glyceroluria Phenylketonuria (phenylalanine hydroxylase deficiency) Hyperphenylalaninuria[metascreen.vn] 2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation.[ncbi.nlm.nih.gov]

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  • Hyperlysinemia Type 1

    See also Saccharopinuria References v Inborn error of amino acid metabolism ( E70–E72 , 270 ) K acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 · type 2 · Hyperlysinemia[wiki30.com] Applicable To Glutaric aciduria type II A Glutaric aciduria type II B Glutaric aciduria type II C Type 1 Excludes Type 1 Excludes Help A type 1 excludes note is a pure excludes[icd10data.com] Calcium lysinate Lysortine (L-lysine monoorotate) L-lysine succinate Lysine clonixinate Lysine acetylsalicylate (the lysine salt of aspirin) Creams containing lysine are[nutrientsreview.com] Lysine degradation is also affected in this disorder leading to hyperlysinemia .[wordsimilarity.com] Unknown parameter month ignored ( help ) v t e Inborn error of amino acid metabolism ( E70–E72 , 270 ) K acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2[wikidoc.org] See also Lysinuria Saccharopinuria References a b c Inborn error of amino acid metabolism ( E70–E72 , 270 ) K acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type[worldlibrary.org]

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