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homocystinuria


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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.

Subjects: Medicine and Health.


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