Methylenetetrahydrofolate reductase deficiency

Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is a rare genetic disorder characterized by a deficiency in the enzyme methylenetetrahydrofolate reductase (MTHFR). This enzyme plays a crucial role in the methionine synthesis pathway, specifically in the conversion of homocysteine to methionine, which is essential for DNA synthesis and repair. The deficiency leads to elevated levels of homocysteine in the blood, a condition known as hyperhomocysteinemia, and reduced levels of methionine, which can result in a wide range of clinical manifestations.

Symptoms and Clinical Manifestations

The symptoms of MTHFR deficiency can vary widely among affected individuals, ranging from mild to severe. They may include developmental delay, seizures, motor and cognitive impairments, and cardiovascular problems due to the increased risk of forming blood clots. Some individuals may also exhibit features of neurological disorders, including muscle weakness, difficulty walking, and abnormal movements.

Genetics

MTHFR deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The gene responsible for this condition is located on chromosome 1 and is identified as the MTHFR gene. Mutations in the MTHFR gene affect the enzyme's ability to process folate (vitamin B9), leading to the accumulation of homocysteine.

Diagnosis

Diagnosis of MTHFR deficiency typically involves a combination of clinical evaluation and laboratory testing. Blood tests can measure levels of homocysteine, methionine, and folate in the blood. Genetic testing can confirm the presence of mutations in the MTHFR gene.

Treatment

Treatment for MTHFR deficiency focuses on managing symptoms and preventing complications. Supplementation with folate, vitamin B12, and vitamin B6 can help lower homocysteine levels in the blood. In some cases, betaine, a compound that helps convert homocysteine to methionine, may also be recommended. It is important for individuals with MTHFR deficiency to receive regular medical follow-up to monitor their condition and adjust treatment as necessary.

Prognosis

The prognosis for individuals with MTHFR deficiency varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and appropriate treatment can improve the quality of life and reduce the risk of complications.

Methylenetetrahydrofolate reductase deficiency Resources
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