Methionine synthase deficiency

Methionine Synthase Deficiency Methionine synthase deficiency is a rare genetic disorder that affects the body's ability to process certain amino acids and vitamins, leading to a variety of health issues. This condition is part of a group of disorders known as inborn errors of metabolism.

Overview

Methionine synthase deficiency is characterized by a deficiency in the enzyme methionine synthase, which is crucial for the conversion of homocysteine to methionine. This enzyme requires vitamin B12 (cobalamin) as a cofactor. The deficiency can lead to elevated levels of homocysteine and decreased levels of methionine in the blood.

Symptoms

The symptoms of methionine synthase deficiency can vary widely among affected individuals but may include:

• Developmental delay
• Neurological problems such as seizures
• Megaloblastic anemia
• Failure to thrive
• Intellectual disability

Genetics

Methionine synthase deficiency is typically inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis

Diagnosis of methionine synthase deficiency is based on clinical evaluation, laboratory tests showing elevated homocysteine and low methionine levels, and genetic testing to identify mutations in the MTR gene, which encodes methionine synthase.

Treatment

Treatment for methionine synthase deficiency may involve:

• Vitamin B12 supplementation
• Dietary modifications to manage homocysteine levels
• Regular monitoring of blood levels of homocysteine and methionine

Prognosis

The prognosis for individuals with methionine synthase deficiency varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and management can improve outcomes and quality of life.

Research

Ongoing research is focused on better understanding the genetic and biochemical mechanisms of methionine synthase deficiency, as well as developing more effective treatments.

See Also

• Homocystinuria
• Inborn errors of metabolism
• Vitamin B12 deficiency

External Links

• Genetic and Rare Diseases Information Center (GARD)
• National Organization for Rare Disorders (NORD)

NIH genetic and rare disease info

• NIH info on Methionine synthase deficiency

Methionine synthase deficiency is a rare disease.