Homocysteine

Why this test?

For the diagnosis of homocystinuria, particularly when there is a suspicion that the child has a hereditary predisposition to the disease.

In some conditions in newborns, the analysis is performed as a component of the examination of infants.

If the sample taken from the child gives a positive result for the disease, then a blood and urine test for homocysteine is prescribed to confirm the diagnosis.

For examination of patients with a high risk of heart attack and stroke.

To screen patients with a family predisposition to coronary artery disease.

In what cases is it prescribed?

When vitamin B12 and folic acid deficiency is suspected in those who have had a poor diet, in the elderly (they usually have reduced absorption of vitamin B12 from food), as well as in people addicted to alcohol and drugs.

When there is a high probability that a child (adolescent) may develop homocystinuria.

If a heart attack or stroke occurred without a predisposition to these diseases.

When examining for the presence of cardiovascular diseases.

Test information

Homocysteine is a sulfur-containing amino acid that is a exchange product of the amino acids methionine and cysteine. Homocysteine is usually found in body cells in very small concentrations. Methionine is one of the eleven essential amino acids, that is, those that are not formed in the body and enter it only with food. In healthy cells, homocysteine is quickly transformed into products of its metabolism.

Vitamins B6, B12 and folic acid are necessary for further metabolism of homocysteine. In patients who experience their deficiency, the level of homocysteine may be increased.

An excess of homocysteine is dangerous for the development of atherosclerosis due to damage to the walls of blood vessels and the formation of blood clots, although there is no direct connection between these two conditions. The advisability of using homocysteine indicators to assess the risk of cardiovascular disease, peripheral vascular disease, and stroke is questionable, since, according to clinical research data, the introduction of folic acid and B vitamins into the bodies of patients did not reduce the number of cardiovascular diseases among them

The level of homocysteine in the blood and urine can increase sharply with homocysteineuria - a rare hereditary disease. It is the cause of changes in one or more genes. In patients, a defective enzyme is formed, which does not allow the splitting of methionine. Due to this, homocysteine and methionine accumulate in the body. A newborn child with homocysteineuria looks healthy, but after a few years she shows signs of the disease: the eye lenses shift, she becomes tall and thin, and the fingers are long and thin, skeletal abnormalities, osteoporosis are observed, in addition, the risk of thrombosis and atherosclerosis increases , which can lead to early cardiovascular diseases. The further development of the disease threatens with a delay in mental development, behavior deviations.