MTHFR deficiency

MTHFR Deficiency

MTHFR deficiency is a genetic condition characterized by a reduced activity of the enzyme methylenetetrahydrofolate reductase (MTHFR). This enzyme plays a crucial role in the folate metabolism pathway, which is essential for the conversion of homocysteine to methionine, a process that is vital for DNA synthesis and repair, as well as for the methylation of various molecules.

Genetics

MTHFR deficiency is typically caused by mutations in the MTHFR gene, which is located on chromosome 1. The most common mutations associated with this condition are C677T and A1298C. These mutations can lead to a decrease in enzyme activity, resulting in elevated levels of homocysteine in the blood, a condition known as hyperhomocysteinemia.

Pathophysiology

The MTHFR enzyme is responsible for converting 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the active form of folate that is required for the remethylation of homocysteine to methionine. A deficiency in MTHFR activity can disrupt this process, leading to an accumulation of homocysteine, which is associated with an increased risk of cardiovascular disease, neural tube defects, and other health issues.

Clinical Manifestations

Individuals with MTHFR deficiency may present with a variety of symptoms, depending on the severity of the enzyme deficiency and the level of homocysteine. Common clinical manifestations include:

• Developmental delays
• Neurological problems
• Increased risk of thrombosis
• Recurrent pregnancy loss

Diagnosis

Diagnosis of MTHFR deficiency is typically made through genetic testing to identify mutations in the MTHFR gene. Additionally, blood tests may be conducted to measure homocysteine levels, which can be elevated in individuals with this condition.

Management

Management of MTHFR deficiency often involves dietary modifications and supplementation. Patients may be advised to increase their intake of folate-rich foods or take folic acid supplements. In some cases, supplementation with other B vitamins, such as B6 and B12, may also be recommended to help lower homocysteine levels.

Prognosis

The prognosis for individuals with MTHFR deficiency varies depending on the severity of the enzyme deficiency and the presence of other risk factors. With appropriate management, many individuals can lead healthy lives, although they may need to be monitored for potential complications related to elevated homocysteine levels.

Also see

• Folate metabolism
• Homocysteine
• Genetic testing
• Cardiovascular disease