L-Methylfolate supplementation in a child with autism and methyltetrahydrofolate reductase, enzyme gene C677TT allele

Psychiatr Genet. 2017 Jun;27(3):116-119. doi: 10.1097/YPG.0000000000000170.


Errors in folate metabolism may play a role in the pathology of autism spectrum disorders because of increased vulnerability to oxidative stress. We report a case where L-methylfolate supplementation improved symptoms of aggression and disruptive behavior in a child with autism who tested positive for the C677TT allele of the methyltetrahydrofolate reductase enzyme gene. To our knowledge, this is the first report of L-methylfolate administration in this situation. Further controlled studies of L-methylfolate in this population are warranted.

Publication types

  • Case Reports

MeSH terms

  • Autistic Disorder / complications
  • Autistic Disorder / genetics*
  • Autistic Disorder / metabolism
  • Child
  • Dietary Supplements
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Methylenetetrahydrofolate Reductase (NADPH2) / metabolism
  • Oxidoreductases
  • Selective Serotonin Reuptake Inhibitors / therapeutic use
  • Tetrahydrofolates / metabolism
  • Tetrahydrofolates / pharmacology*


  • Serotonin Uptake Inhibitors
  • Tetrahydrofolates
  • Oxidoreductases
  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • 5-methyltetrahydrofolate