homocystinuria

(redirected from Homocysteinuria)
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homocystinuria

[‚hō·mō‚sis·tə′nu̇r·ē·ə]
(medicine)
A hereditary disease characterized by a deficiency of the enzyme serine dehydratase causing incompletely dislocated lenses after the age of 10, thromboembolisms, and usually mental retardation.
References in periodicals archive ?
Higginbottom MC, Sweetman L and WL Nyhan A syndrome of methyl malonicaciduria, homocysteinuria, megaloblastic anaemia and neurological abnormalities in vitamin [B.
Asymmetric dimethylarginine in homocysteinuria due to cystathionine beta-synthase deficiency: relevance of renal function.
7) Homocysteinuria is a rare genetic disorder that presents with arterial and venous thromboses in young patients--in such cases, with otherwise unexplained CVD or thromboses, homocysteine testing is important.
The observation of advanced and early-onset atherosclerosis in patients with homocysteinuria prompted evaluation of plasma homocysteine as a risk factor for atherosclerosis in the broader population.