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 mentally retarded, excessively tall with long fingers (due to overgrowth of bones), generally have loose ligaments (which may result in dislocation of the lens), and have a tendency to form blood clots in the veins and arteries, leading to strokes. Treatment is by diet, which may allow for normal development if the disease is recognized early enough, and high-dose vitamin B6 therapy.

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  • 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 — 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… …   Useful english 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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