Analysis index

2 ml EDTA-blood

Hyperhomocysteinemia, congenital or acquired, is an independent risk factor for arterial and venous thrombosis. A genetic polymorphism in the 5.10-methylenetetrahydrofolate reductase gene MTHFR gene) is the most common cause of congenital hyperhomocysteinemia. Due to the frequency of the MTHFR gene mutation (C677T mutation) with a prevalence of the homozygous form in the normal population between 10 – 20 %, one does not speak of a genetic defect but rather of a disease-associated polymorphism. The MTHFR mutation only leads to a minor increase of the venous thrombosis risk, even in the homozygous form, except when there is an additional factor V mutation or factor II mutation. It is assumed that the MTHFR mutation is responsible for some of the neural tube defects, which could be related to an increased folic acid requirement. The increased homocysteine level can be decreased by giving folic acid supplements of 1 mg/day.

Please also refer to: “Homocysteine, total”