European Journal of Pediatrics

, Volume 142, Issue 2, pp 147–150

Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

  • U. Wendel
  • H. J. Bremer
Case Reports

DOI: 10.1007/BF00445602

Cite this article as:
Wendel, U. & Bremer, H.J. Eur J Pediatr (1984) 142: 147. doi:10.1007/BF00445602


In a 3-year-old mentally retarded girl with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency among different therapeutic approaches only treatment with betaine (15–20 g/day) resulted in a satisfactory biochemical response. Betaine improved homocysteine remethylation and thus lowered plasma homocystine to trace amounts and normalized the previously very low plasma methionine concentration. This biochemical response was associated with a clinical improvement although she remained mentally retarded.

Key words

Homocystinuria 5,10-methylenetetrahydrofolate reductase deficiency Betaine Homocysteine remethylation 

Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • U. Wendel
    • 1
  • H. J. Bremer
    • 1
  1. 1.University Children's Hospital CUniversity of DüsseldorfDüsseldorfFRG