European Journal of Pediatrics

, Volume 142, Issue 2, pp 147–150 | Cite as

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

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


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 


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Copyright information

© Springer-Verlag 1984

Authors and Affiliations

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

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