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199 Possible Causes for activity, dioxygenase, gamma butyrobetaine,2 oxoglutarate

  • Carnitine

    […] with the active gum compared to placebo gum and no gum.[ncbi.nlm.nih.gov] oxoglutarate dioxygenase 1 (BBOX1), an enzyme essential for the biosynthesis of carnitine de novo.[ncbi.nlm.nih.gov] […] and rat. butyrobetaine fatty acid metabolism hydroxytrimethyl-lysine trimethyl-lysine Footnotes Abbreviations used: ALDH9, aldehyde dehydrogenase 9; BBD, γ-butyrobetaine dioxygenase[biochemj.org] ., 6-N-trimethyllysine dioxygenase and gamma-butyrobetaine dioxygenase.[ncbi.nlm.nih.gov]

  • Tyrosinemia

    Abstract Tyrosinemia type III (OMIM 276710) is an autosomal recessive disorder caused by the deficiency of 4-hydroxyphenylpyruvate dioxygenase (HPD), the second enzyme in[ncbi.nlm.nih.gov] RESULTS: NTBC rapidly normalized the biomarkers for 4-HPPD activity.[ncbi.nlm.nih.gov] The disease results from deficiency in hepatic tyrosine aminotransferase (TAT; L-tyrosine:2-oxoglutarate aminotransferase, EC 2.6.1.5), a 454-amino acid protein encoded by[ncbi.nlm.nih.gov] The enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) catalyzes the reaction of 4-hydroxyphenylpyruvic acid to homogentisic acid in the tyrosine catabolism pathway.[ncbi.nlm.nih.gov]

    Missing: gamma butyrobetaine
  • Hawkinsinuria

    The enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) catalyzes the reaction of 4-hydroxyphenylpyruvic acid to homogentisic acid in the tyrosine catabolism pathway.[ncbi.nlm.nih.gov] The IIe335Met allele is equivalent to a null mutation while the Asn241Ser allele results in a partially active enzyme with an uncoupled turnover causing hawkinsinuria.[ncbi.nlm.nih.gov] Hydroxyisovaleric acid X X ---2-Hydroxyisocaproic acid X X ---2-Hydroxy-3-methylvaleric acid X X Dihydrolipoyl dehydrogenase (E3) deficiency ---*Lactic acid X X ---2-Oxoglutaric[biochemweb.slu.edu] From Wikidata Jump to navigation Jump to search disease 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency HAWKINSINURIA 4-hydroxyphenylpyruvic acid dioxygenase deficiency[wikidata.org]

    Missing: gamma butyrobetaine
  • Pipecolic Acidemia

    All four patients had elevated serum phytanic acid concentrations (0.3 to 2.7 mg/dl, normal less than 0.2 mg/dl) and deficient fibroblast phytanic acid oxidase activity (0.1[wwww.unboundmedicine.com] […] phytanoyl-CoA 2-oxoglutarate 2-hydroxyphytanoyl-CoA succinate CO2 - - - - ir phytanoyl-CoA 2-oxoglutarate O2 2-hydroxyphytanoyl-CoA succinate CO2 phytanoyl-CoA 2-oxoglutarate[brenda-enzymes.org] 1 [KO: K00473 ] [EC: 1.14.11.4 ] 5352 PLOD2; procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 [KO: K13645 ] [EC: 1.14.11.4 ] 8985 PLOD3; procollagen-lysine,2-oxoglutarate[genome.jp] الصفحة 40 - The development of the electroencephalogram in normal children from the age of 1 through 15 years: paroxysmal activity. ‏[books.google.com]

  • Connective Tissue Disorder due to Lysyl Hydroxylase-3 Deficiency

    He maintains an active clinical practice as a Certified Advanced Practitioner of Rolfing Structural Integration in addition to his research activities as Associate Director[books.google.com] Gene names and symbols associated with PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 L homeolog (plod3.L) antibody procollagen-lysine,2-oxoglutarate 5-dioxygenase[antibodies-online.com] Target Alternative Names PLOD3; procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3; procollagen-lysine,2-oxoglutarate 5-dioxygenase 3; LH3; lysyl hydroxlase 3; lysyl hydroxylase[creative-diagnostics.com] 5-dioxygenase 3 UniProt Protein Name Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 UniProt Synonym Protein Names Lysyl hydroxylase 3; LH3 UniProt Synonym Gene Names UniProt[mybiosource.com]

    Missing: gamma butyrobetaine
  • Tyrosinemia Type 3

    COMMENT: Transfusion with red blood cells may cause GALT enzyme activity to appear falsely normal.[slh.wisc.edu] […] acid Phenylpyruvic acid L-Glutamic acid H 2 O O 2 NH 3 H 2 O 2 Oxoglutaric acid L-Glutamic acid L-erythro-tetrahydrobiopterin O 2 4a-Hydroxytetrahydrobiopterin Oxoglutaric[smpdb.ca] Abstract Mutations in the human HPD gene (encoding 4-hydroxyphenylpyruvic acid dioxygenase) cause hereditary tyrosinemia type 3 (HT3).[ncbi.nlm.nih.gov] dioxygenase gene ( HPD ) in patients with tyrosinemia type III[semanticscholar.org]

    Missing: gamma butyrobetaine
  • Scutellaria Baicalensis

    The pure compounds were evaluated for anti-influenza activities against A/WSN/33 (H1N1) virus in MDCK cells, cytotoxic activities against HepG2, SW480 and MCF7 human cancer[ncbi.nlm.nih.gov] FNSI is a cytoplasmic 2-oxoglutarate– and Fe 2 -dependent dioxygenase ( 23 ) and has been best characterized in members of the Apiaceae, particularly parsley ( 24 ), and in[advances.sciencemag.org] ), flavonol 3’-hydroxylase (F3’H) and flavonol synthase (FLS) are positively regulated by subgroup 7 R2R3-MYBs, and dihydroflavonol-4-reductase (DFR), leucoanthocyanidin dioxygenase[journals.plos.org] Wogonin and S. baicaleisis down-regulated the telomerase activity.[ncbi.nlm.nih.gov]

    Missing: gamma butyrobetaine
  • Tyrosine Transaminase Deficiency

    The enzyme incorporates both atoms of oxygen into the substrate, therefore called Dioxygenase. iii) Clinical significance Deficiency of – p-OH Phenylpyruvate Dioxygenase,[usmle.biochemistryformedics.com] […] identify the causative mutations in five TAT alleles cloned from three RHS patients, chimeric genes constructed from normal and mutant TAT alleles were tested in directing TAT activity[ncbi.nlm.nih.gov] I249A mutant hTATase exhibits an unusual spectrum with a similar aldimine pK(a) (6.85). hTATase has very narrow substrate specificity with the highest enzymatic activity for[ncbi.nlm.nih.gov] Article / Publication Details First-Page Preview Abstract Cytoplasmic tyrosine aminotransferase (L-tyrosine: 2-oxoglutarate aminotransferase, EC2.6.1.5) was partially purified[karger.com]

    Missing: gamma butyrobetaine
  • 2-Aminoadipic 2-Oxoadipic Aciduria

    Protein evidence (Ezkurdia et al 2014) Show all GO:0002244 [hematopoietic progenitor cell differentiation] GO:0004591 [oxoglutarate dehydrogenase (succinyl-transferring) activity[proteinatlas.org] This gene codes for dehydrogenase E1 and transketolase domain-containing protein 1, which is part of a 2-oxoglutarate-dehydrogenase-complex-like protein.[ncbi.nlm.nih.gov] […] syndrome 3MC syndrome 3MG-CoA hydratase deficiency 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-HPPD deficiency 4-hydroxybutyric aciduria 4-hydroxyphenylpyruvic acid dioxygenase[csbg.cnb.csic.es] [provided by RefSeq, May 2013] UniProt Comments for DHTKD1 DHTKD1: The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA[mybiosource.com]

    Missing: gamma butyrobetaine
  • Biotinidase Deficiency

    Deficiency of proline dipeptidase Deficiency of prolyl dipeptidase Deficiency of propionyl-CoA carboxylase Deficiency of protein kinase Deficiency of protocatechuate 3,4-dioxygenase[icd9data.com] In 18 patients found by newborn screening, the range of biotinidase activities was 0%-9% residual activity.[ncbi.nlm.nih.gov] activities.[doi.org] […] biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous[ncbi.nlm.nih.gov]

    Missing: gamma butyrobetaine