Definitions for "Homocystinuria"
Resembles Marfan's syndrome - due to lack of cystanthionine synthase.
A metabolic abnormality characterized by excessive amounts of the amino acid homocystine in the urine. Homocystinuria, which may be transmitted as an autosomal recessive trait, may result from deficient activity of certain enzymes involved in the metabolic conversion of the amino acid methionine to cysteine. Associated symptoms and findings often include developmental delay; dislocated lens of the eyes (ectopia lentis); thin, weak muscles; progressive mental retardation; psychiatric abnormalities; skeletal defects; blockage of a blood vessel by a piece of a blood clot (thrombus) carried in the bloodstream (thromboembolism); and/or other abnormalities.
An inherited disease caused by the absence of an enzyme essential to the metabolism of homocystine