Homocysteinemia due to MTHFR deficiency
Type of disease: Rare conditions
Homocysteinemia due to MTHFR deficiency is a metabolic condition characterized by neurological problems, such as developmental delay, seizures, and microcephaly. Signs and symptoms of vary from no symptoms to severe neurologic and blood vessel disease. It is inherited in an autosomal recessive fashion and is caused by mutations in the MTHFR gene . These mutations may cause a mild to severe loss of activity of the MTHFR enzyme and result in elevated levels of homocysteine in the blood (homocysteinemia) or urine (homocysteinuria). The most common MTHFR gene mutation is the C677T mutation. Health problems tend not to be related to whether someone has a MTHFR gene mutation or even a MTHFR enzyme deficiency, but whether the deficiency is leading to elevated levels of homocysteine in the blood (homocysteinemia) or urine. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.