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2,634 Possible Causes for gamma glutamyl, octopamine, synthetase

  • Connective Tissue Disease

    Gamma-Glutamyl Cycle Disorders Disease (OMIM Number) Defective Proteins or Enzymes Defective Gene or Genes (Chromosomal Location) Comments γ -Glutamylcysteine synthetase deficiency[merck.com] […] features of various connective-tissue diseases (CTDs) such as systemic lupus erythematosus (SLE); systemic sclerosis (SSc); dermatomyositis (DM); polymyositis (PM); anti-synthetase[en.wikipedia.org] (230450) γ -Glutamylcysteine synthetase GGLC (6p12)* Biochemical profile: Aminoaciduria, glutathione deficiency Clinical features: Hemolysis, spinocerebellar degeneration[merck.com]

    Missing: octopamine
  • 5-Oxoprolinuria

    CONCLUSION: 5-Oxoprolinuria is a more common condition than hitherto thought and is primarily associated with defects in the gamma-glutamyl cycle.[ncbi.nlm.nih.gov] Abstract 5-Oxoprolinuria (pyroglutamic aciduria) resulting from glutathione synthetase (GSS) deficiency is an inherited autosomal recessive disorder characterized, in its[ncbi.nlm.nih.gov] Abstract The primary metabolic defect in 5-oxoprolinuria is a generalized deficiency of glutathione synthetase.[ncbi.nlm.nih.gov]

    Missing: octopamine
  • Hemolytic Anemia due to Deficient Glutathione Synthesis

    Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation[orpha.net] Some people with severe glutathione synthetase deficiency also develop recurrent bacterial infections. Glutathione synthetase deficiency is very rare.[ghr.nlm.nih.gov] Disorders of Gamma Glutamyl Cylce. In: Inborn Metabolic Diseases , 2nd ed.[rarediseases.org]

    Missing: octopamine
  • Pyroglutamate Hydrolase Deficiency

    FSN, synonyms Type Case sensitivity Preferency Language Disorder of gamma-glutamyl cycle Synonym initial insensitive acceptable GB English Disorder of the gamma-glutamyl cycle[doctor.am] Deficit en glutathion-synthetase avec 5-oxoprolinuria. Nouv. Presse Med. 7 (1978) 1531–1535 Google Scholar Stromme, J. H. and Eldjarn, L.[link.springer.com] Feedback inhibition of gamma-glutamyl-cysteine synthetase by glutathione was also normal.[ncbi.nlm.nih.gov]

    Missing: octopamine
  • Anemia due to Glutathione Metabolism Disorder

    glutamyl cysteine synthetase deficiency HNSHA due to glutathione reductase deficiency HNSHA due to glutathione synthetase deficiency The code D55.1 is grouped in the following[healthprovidersdata.com] Some people with severe glutathione synthetase deficiency also develop recurrent bacterial infections. Glutathione synthetase deficiency is very rare.[ghr.nlm.nih.gov] Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation[orpha.net]

    Missing: octopamine
  • Upper Respiratory Infection

    […] are mucolytics, penicillin antibiotics, quinolone antibiotics, tetracycline antibiotics, macrolide antibiotics, lincosamide antibiotics, cephalosporin antibiotics, and RNA synthetase[goodrx.com]

    Missing: gamma glutamyl octopamine
  • Multiple Carboxylase Deficiency

    Etiology VKCFD is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase ( GGCX ; 2p12) or the vitamin K 2,3-epoxide reductase[orpha.net] […] distinct variants at the holocarboxylase synthetase locus.[ncbi.nlm.nih.gov] We have developed an assay for holocarboxylase synthetase in extracts of human fibroblasts using as substrate apopropionyl-CoA carboxylase partially purified from livers of[ncbi.nlm.nih.gov]

    Missing: octopamine
  • Carbamoyl Phosphate Synthetase Deficiency

    […] acid transaminase deficiency Gamma-glutamyl transpeptidase deficiency Gangliosidosis Gaucher disease Gaucher disease type 1 Gaucher disease type 2 Gaucher disease type 3[se-atlas.de] Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency .[ghr.nlm.nih.gov] Carbamoyl phosphate synthetase deficiency is a rare urea cycle disorder.[symptoma.com]

    Missing: octopamine
  • Progressive Familial Intrahepatic Cholestasis

    Progressive familial intrahepatic cholestasis (PFIC) types 1 and 2 are characterized by normal serum gamma-glutamyl transferase (GGT) activity and are due to mutations in[ncbi.nlm.nih.gov] ROR2, HOXD13 Brugada-Syndrom SCN5A, SCN1B, KCNE3, GPD1L, HCN4, SCN3B, CACNA1C, CACNB2 CADASIL NOTCH3 Calpainopathie CAPN3, CAPN3 Canavan disease ASPA Carbamoylphosphate synthetase[meduniwien.ac.at] CASE CHARACTERISTICS: An Indian girl with progressive cholestatic liver disease beginning during infancy, normal gamma-glutamyl transpeptidase levels, parental consanguinity[ncbi.nlm.nih.gov]

    Missing: octopamine
  • Alcoholic Fatty Liver

    Olzmann & Pedro Carvalho Nature Reviews Molecular Cell Biology (2019) Systems Genetics of Hepatic Metabolome Reveals Octopamine as a Target for Non-Alcoholic Fatty Liver Disease[dx.doi.org] RESULTS: We observed significant differences in male prevalence ( P 0.01), platelet count ( P 0.04), and gamma-glutamyl transpeptidase ( P 0.02) between the test groups.[ncbi.nlm.nih.gov] […] dehydrogenase and medium-chain acyl-CoA dehydrogenase] or failed to be induced (acyl-CoA dehydrogenase, liver carnitine palmitoyl-CoA transferase I, very long-chain acyl-CoA synthetase[ncbi.nlm.nih.gov]