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homocystinuria
(redirected from Homocysteinuria)

   Also found in: Medical, Wikipedia 0.01 sec.
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.


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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.
Lower amounts of collagen cross-links have been found in patients who have homocysteinuria.
 
 
 
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