homocystinuriamedical dictionary

<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

(11 Nov 1997)