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Homocystinuria

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Homocystinuria

(Science: biochemistry) recessive condition in which the enzyme (cystathione synthetase) that converts homocysteine and serine into cystathione, a precursor of cysteine, is missing.

deficiency of this enzyme has widespread consequences in connective tissue, circulation and nervous system.

Inheritance: autosomal recessive.

Origin: gr. Ouron = urine