Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome

Am J Med Genet. 1998 May 18;77(3):198-200.


Deficiency of methylenetetrahydrofolate reductase (MTHFR) is associated with a variable phenotype that includes mental retardation, gait abnormalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome. We report on a patient with MTHFR deficiency who was initially diagnosed as having Angelman syndrome. This case illustrates that MTHFR deficiency can mimic the phenotype of Angelman syndrome and that MTHFR deficiency should be excluded in patients with manifestations of Angelman syndrome whose molecular studies of chromosome 15 are normal.

Publication types

  • Case Reports

MeSH terms

  • Angelman Syndrome / diagnosis*
  • Angelman Syndrome / genetics
  • Child
  • Diagnosis, Differential
  • Homocysteine / blood
  • Homocysteine / urine
  • Homocystinuria / diagnosis*
  • Humans
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Methionine / blood
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Oxidoreductases Acting on CH-NH Group Donors / deficiency*
  • Phenotype
  • Vitamin B 12 / metabolism


  • Homocysteine
  • Methionine
  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Vitamin B 12