Homocysteinuria

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.

Incidence

Frequency of occurrence is 1 in 100,000 patients.

Complications

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.