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