urocanase deficiency

urocanase deficiency
uro·can·ase de·fi·cien·cy (u″ro-kanґās) an inherited disorder of histidine catabolism caused by mutation in the UROC1 gene (locus 3q21.3), which encodes urocanate hydratase. It is characterized by excess urinary excretion of urocanic acid and growth retardation and may also be associated with mental retardation.

Medical dictionary. 2011.

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  • Urocanic aciduria — Infobox Disease Name = PAGENAME Caption = Urocanic acid DiseasesDB = 32605 ICD10 = ICD10|E|70|8|e|70 ICD9 = ICD9|270.5 ICDO = OMIM = 276880 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D014560 Urocanic aciduria, also called urocanate… …   Wikipedia

  • urocanate hydratase — uro·can·ate hy·dra·tase (u″ro kanґāt hyґdrə tās) [EC 4.2.1.49] an enzyme of the lyase class that catalyzes the reduction of urocanate to formiminoglutamate, a step in the catabolism of histidine. Deficiency of the enzyme,… …   Medical dictionary

  • List of diseases (U) — A list of diseases in the English wikipedia.DiseasesTOC Ud Up* UDP galactose 4 epimerase deficiency * Uhl anomaly * Ulbright Hodes syndrome * Ulcerative colitis * Ulerythema ophryogenesis * Ulna and fibula absence with severe limb deficit * Ulna… …   Wikipedia

  • urocanic acid — 4 Imidazoleacrylic acid; an acid derived from the oxidative deamination of l histidine; present in sweat and in dog s urine; elevated levels are observed in cases of urocanate hydratase deficiency. The cis form, resulting from exposure to UV… …   Medical dictionary

  • Urocanic acid — Chembox new ImageFile=Urocanic acid.svg ImageSize= IUPACName=3 (3 H imidazol 4 yl)prop 2 enoic acid OtherNames= Section1= Chembox Identifiers CASNo=104 98 3 PubChem=1178 SMILES=C1=C(NC=N1)C=CC(=O)O MeSHName=Urocanic+acid Section2= Chembox… …   Wikipedia

  • Urocanate hydratase — (also known as urocanase) is an enzyme involved in the conversion of urocanate and imidazol 4 one 5 propionic acid. Inherited deficiency of urocanate hydratase leads to elevated levels of urocanic acid in the urine, a condition known as urocanic… …   Wikipedia

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