homocystinuria

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homocystinuria (hoh-moh-sis-tin-yoor-iă) n. an inborn error of metabolism caused by an enzyme deficiency resulting in an excess of homocysteine in the blood and the presence of homocystine (an oxidized form of cysteine) in the urine. Clinically affected individuals are mentally retarded, excessively tall with long fingers (due to overgrowth of bones), and have a tendency to form blood clots in the veins and arteries, leading to strokes.

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