Assays / Genetic Enzymes / Homocystinuria

There is considerable clinical heterogeneity in the classical form of homocystinuria, due to deficiency of cystathionine a-synthetase. Symptoms include dislocation of the optic lens, mental retardation, osteoporosis, arterial or venous thrombosis, generalised convulsions and fits, but the severity of these varies considerably between patients.

Enzyme Tests: Cystathionine b-synthetase is assayed to diagnose this disorder.

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