homocystinuria

\\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 resulting accumulation of homocystine in the body and its excretion in the urine, and characterized typically by mental retardation, dislocation of the crystalline lenses, skeletal abnormalities, and thromboembolic disease

Useful english dictionary. 2012.

Look at other dictionaries:

  • Homocystinuria — Classification and external resources Homocysteine ICD 10 E72 …   Wikipedia

  • homocystinuria — homocystinuria. См. гомоцистинурия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • homocystinuria — ▪ 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,… …   Universalium

  • Homocystinuria — 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… …   Medical dictionary

  • homocystinuria — 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… …   Dictionary of molecular biology

  • homocystinuria — noun An inherited metabolic disorder characterised by the presence of homocysteine in the urine …   Wiktionary

  • homocystinuria — ho·mo·cys·ti·nu·ria …   English syllables

  • homocystinuria — 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… …   The new mediacal dictionary

  • гомоцистинурия — (homocystinuria; гомоцистин + греч. uron моча) наследственная болезнь, обусловленная нарушением обмена метионина вследствие недостаточности L сериндегидрогеназы с накоплением в тканях гомоцистина; клинически проявляется нарушениями формирования… …   Большой медицинский словарь

  • Гомоцистинури́я — (homocystinuria; гомоцистин + греч. uron моча) наследственная болезнь, обусловленная нарушением обмена метионина вследствие недостаточности L сериндегидрогеназы с накоплением в тканях гомоцистина; клинически проявляется нарушениями формирования… …   Медицинская энциклопедия

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