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homocystinuria

   Also found in: Medical, Wikipedia 0.03 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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Homocystinuria is a rare inherited disease in which the levels of homocysteine in the blood become excessively high.
The elevations of homocysteine occur in rare hereditary disease homocystinuria.
In addition to heart disease risk, it is well documented that very high homocysteine blood levels are related to osteoporosis in people with a genetic disorder known as homocystinuria.
 
 
 
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