homocystinuria

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homocystinuria A genetic disease affecting the metabolism of the amino acid methionine and its conversion to cysteine, characterized by excretion of homocysteine and its derivatives. May result in mental retardation and early death from atherosclerosis and coronary thrombosis if untreated, as well as fractures of bones and dislocation of the lens of the eye. Treatment (which must be continued throughout life) is either by feeding a diet low in methionine and supplemented with cysteine or, in some cases by administration of high intakes of vitamin B6 (about 100–500 times the normal requirement).

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