Homocysteinuria: Overview

The compound homocysteine is normally not found in the blood or urine in noteworthy amounts.  Homocysteinuria is a metabolic disorder resulting in an excessive accumulation of homocysteine in the blood and urine.

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Frequency of occurrence is 1 in 100,000 patients.


Elevated homocysteine levels are a risk factor for all kinds of vascular disease including strokes and heart ailments.  Homocysteinuria can result in mental retardation and seizures.

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Homocysteinuria could instead be:


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Health problems rarely occur in isolation or for obvious reasons

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Weak or unproven link: is very occasionally misdiagnosed as
Weak or unproven link:
is very occasionally misdiagnosed as