The disease is associated with the ocular, skeletal, central nervous system, and vascular abnormalities. Patients with homocysteinuria are at high risk for pulmonary embolism, stroke, and myocardial infarction. They usually die before the age of 20. Homocysteinuria is most easily diagnosed by measuring Hcy in urine by a positive urinary cyanide-nitroprusside reaction. It is important to note that tHcy levels increase with age and that both smoking and many drugs will increase the plasma or serum tHcy level.
Vitamin supplements are useful in treating elevated homocysteine.
Treatment of homocysteinemia also includes a low methionine diet. Fermo I, et al. Methodological aspects of total plasma homocysteine. Homocysteine and vascular disease. Nygard O. Plasma homocysteine levels and mortality in patients with coronary artery disease.