- oroticaciduria
- بيلة حمض الأوروتيك
* * *بِيلَةُ حَمْضِ الأوروتيك
English-Arabic Medical Dictionary. 2013.
oroticaciduria
Look at other dictionaries:
oroticaciduria — orot·ic·ac·i·du·ria (ə rot″ik as″ĭ duґre ə) 1. excess of orotic acid in the urine. 2. an autosomal recessive defect of pyrimidine metabolism due to deficiency of orotate phosphoribosyltransferase (OPRT) or orotidine… … Medical dictionary
amino-acid N-acetyltransferase — ami·no ac·id N ac·e·tyl·trans·fer·ase (ə meґno asґid as″ə tēl transґfər ās) [EC 2.3.1.1] an enzyme of the transferase class that catalyzes the transfer of an acetyl group from acetyl coenzyme A to the N terminus of… … Medical dictionary
arginase deficiency — ar·gi·nase de·fi·cien·cy (ahrґjĭ nās) 1. an autosomal recessive aminoacidopathy caused by mutations in the ARG1 gene (locus: 6q23), which encodes arginine 1. Arginine is elevated in blood and urine and may cause secondary cystinuria;… … Medical dictionary
carbamoyl phosphate synthetase deficiency — car·bam·o·yl phos·phate syn·the·tase de·fi·cien·cy (kahr bamґo əl fosґfāt sinґthə tās) an autosomal recessive aminoacidopathy caused by mutations in the CPS1 gene (locus: 2q35), which encodes carbamoyl phosphate synthase… … Medical dictionary
citrullinemia type I — a condition caused by mutations in the ASS gene (locus: 9q34.1), which encodes argininosuccinate synthase, marked elevation in plasma and urine levels of citrulline, with hyperammonemia and sometimes secondary oroticaciduria; mild to moderate… … Medical dictionary
ornithine carbamoyltransferase (OCT) deficiency — or·ni·thine car·ba·mo·yl·trans·fer·ase (OCT) de·fi·cien·cy (orґnĭ thēn kahr bam″o əl transґfər ās) an aminoacidopathy due to mutation in the OTC gene (locus: Xp21.1), which encodes ornithine carbamoyltransferase, an … Medical dictionary
orotate phosphoribosyltransferase — (OPRT) or·o·tate phos·pho·ri·bo·syl·trans·fer·ase (OPRT) (orґo tāt fos″fo ri″bo səl transґfər ās) [EC 2.4.2.10] an enzyme activity of the transferase class that catalyzes the transfer to orotate of a ribosyl group… … Medical dictionary
orotidine-5‵ — phosphate decarboxylase (ODC) orot·i·dine 5‵ phos·phate de·car·box·y·lase (ODC) (ə rotґĭ dēn fosґfāt de″kahr bokґsə lās) [EC 4.1.1.23] an enzyme of the lyase class that catalyzes the decarboxylation of… … Medical dictionary
UMP synthase deficiency — UMP syn·thase de·fi·cien·cy (sinґthās) oroticaciduria, type I … Medical dictionary
