Homocystinuria due to defect in methylation, MTHFR deficiency

Homocystinuria due to defect in methylation, MTHFR deficiency is a rare, inherited disorder that affects the body's ability to process certain amino acids, leading to a buildup of homocysteine in the blood and urine. This condition is a form of homocystinuria, which encompasses several genetic disorders involving the abnormal metabolism of the amino acid methionine. The specific type discussed here is caused by a deficiency in the enzyme methylenetetrahydrofolate reductase (MTHFR), which plays a crucial role in the methylation pathway of homocysteine metabolism.

Causes

Homocystinuria due to MTHFR deficiency is caused by mutations in the MTHFR gene, which provides instructions for making the enzyme necessary for converting homocysteine to methionine. Without sufficient activity of this enzyme, homocysteine levels increase, and methionine levels decrease in the body.

Symptoms

The symptoms of MTHFR deficiency can vary widely among affected individuals. They may include developmental delay, intellectual disability, seizures, movement disorders, and a tendency to form blood clots (thrombosis). Some individuals may have features similar to those of Marfan syndrome, such as a tall, thin build and long limbs.

Diagnosis

Diagnosis of homocystinuria due to MTHFR deficiency involves biochemical testing to measure the levels of homocysteine in the blood and urine. Genetic testing can confirm mutations in the MTHFR gene.

Treatment

Treatment typically focuses on lowering homocysteine levels in the blood and may include supplements of vitamin B6 (pyridoxine), vitamin B9 (folate), and vitamin B12 (cobalamin). In some cases, a diet low in methionine may also be recommended.

Prognosis

The prognosis for individuals with homocystinuria due to MTHFR deficiency varies. Early diagnosis and treatment can improve the outcome and may help prevent complications such as thrombosis. However, the severity of the condition and the response to treatment can vary widely among individuals.

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