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.
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