homocystinuria
1Homocystinuria — Classification and external resources Homocysteine ICD 10 E72 …
2homocystinuria — homocystinuria. См. гомоцистинурия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …
3homocystinuria — ▪ pathology hereditary metabolic disorder involving methionine, a sulfur containing essential amino acid. The metabolic sequence of methionine normally begins with its stepwise conversion to homocysteine, cystathionine, and cysteine,… …
4Homocystinuria — A genetic disease due to an enzyme deficiency. Among other events, there is a buildup of the amino acid homocystine. Progressive mental retardation is common in untreated cases. The finding of vascular disease and premature arteriosclerosis in… …
5homocystinuria — Recessive condition in which the enzyme (cystathione synthetase) that converts homocysteine and serine into cystathione, a precursor of cysteine, is missing. Deficiency of this enzyme has widespread consequences in connective tissue, circulation… …
6homocystinuria — noun An inherited metabolic disorder characterised by the presence of homocysteine in the urine …
7homocystinuria — ho·mo·cys·ti·nu·ria …
8homocystinuria — n. an inborn error of metabolism, inherited as an autosomal recessive trait, caused by an enzyme deficiency resulting in an excess of homocysteine in the blood and the presence of homocystine in the urine. Clinically affected individuals are… …
9homocystinuria — ˌhōməˌsistə̇ˈn(y)u̇rēə, ˌhäm noun Etymology: New Latin, from English homocystine + New Latin uria : a metabolic disorder inherited as a recessive autosomal trait, caused by deficiency of an enzyme important in the metabolism of homocystine with… …
10гомоцистинурия — (homocystinuria; гомоцистин + греч. uron моча) наследственная болезнь, обусловленная нарушением обмена метионина вследствие недостаточности L сериндегидрогеназы с накоплением в тканях гомоцистина; клинически проявляется нарушениями формирования… …