Effects of thiamine in a patient with a variant form of branched-chian ketoaciduria

Acta Paediatr Scand. 1978 May;67(3):367-72. doi: 10.1111/j.1651-2227.1978.tb16336.x.


A boy with the intermediate variant of branched-chain ketoaciduria was studied. Treatment with an amino acid mixture was discontinued at the age of 7.5 years. Reintroduction of normal protein-containing foods precipitated the biochemical abnormalities, characteristic of MSUD, which were relieved by 10 mg thiamine/day. Adaptation to this regiment developed and thiamine intake was increased to 100 mg/day, later to 1 000 mg/day. The patient developed well and had no attacks of ketoacidosis. 1-14C-leucine degradation in intact fibroblasts was 15% of controls and did not increase upon addition of thiamine to the incubation medium.

Publication types

  • Case Reports

MeSH terms

  • Amino Acids / blood
  • Carboxy-Lyases / metabolism
  • Child
  • Chromatography, Gas
  • Fibroblasts / enzymology
  • Humans
  • Keto Acids / urine*
  • Male
  • Maple Syrup Urine Disease / drug therapy*
  • Thiamine / administration & dosage
  • Thiamine / therapeutic use*


  • Amino Acids
  • Keto Acids
  • Carboxy-Lyases
  • Thiamine