Homocysteine

General information:

Elevated serum homocysteine is a risk factor for atherosclerosis, cardiovascular disease, cerebrovascular disease, and venous thromboembolism. At the same time, the mechanisms of the proatherogenic effect of this amino acid are insufficiently well studied. Whether hyperhomocysteinemia is a marker rather than a causative factor for atherosclerotic disease still remains unclear.

Elevated HC, in addition to being an important risk factor in the evaluation of cardiovascular diseases, in recent years has also been associated with some neurodegenerative, neuropsychiatric diseases, Alzheimer's disease, osteoporosis and others.
For diagnosis of patients with hyperhomocysteinemia (elevated serum levels of HC). They are established in the following cases:

genetic deficiency of the enzymes involved in HC metabolism - cystathionine beta-synthase, methionine synthase and methylenetetrahydrofolate reductase; Congenital enzyme defects lead to the clinical manifestation of the disease homocystinuria: increased emission of HC in the urine, extremely high values of HC in the blood >100 μmol/l and manifestations of: specific eye symptoms (dislocation of the eye lens, progressive myopia, cataract, glaucoma, atrophy of the optic nerve), delayed mental development, convulsive disorders, damage to the musculoskeletal system (distortion of the lower legs, chest deformity, scoliosis, osteoporosis), arterial and venous thrombosis, etc.
nutritional deficiency of B vitamins: folic acid (mostly), vitamin B12, vitamin B6. The examination of HC is a way of early detection of a deficiency of these vitamins, since its increase precedes their decrease;
kidney failure;
drug interactions - methotrexate, carbamazepine, phenytoin, anticonvulsants, etc., lead to disturbances in folate and HC metabolism;

Sample required:

Venous blood in morning in fasting

Key words:

Homocysteine, cardiovascular diseases, enzyme