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Definition of «Homocystinuria»


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 persons with homocystinuria led to the theory that homocystine may be a factor in heart disease.

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