Methylenetetrahydrofolate reductase deficiency

external

• Synonyms

  • MTHFR deficiency

• Causes

  • MTHFR gene mutation
  • MTHFR gene mutation

• Effects

  • Homocystinuria
  • Anencephaly
  • Spina bifida
  • Genetic hypercoagulable state
  • Homocysteinaemia

• Parents

  • Autosomal recessive congenital metabolic disease

• Description

  • "MTFHR is required for folic acid synthesis. It converts 5
  • 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to methionine."