Thiamin-responsive maple syrup urine disease: seizures after 7 years of satisfactory metabolic control

J Inherit Metab Dis. 2001 Nov;24(6):683-4. doi: 10.1023/a:1012767127434.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acids, Branched-Chain / blood
  • Child
  • Electroencephalography
  • Female
  • Humans
  • Maple Syrup Urine Disease / complications*
  • Maple Syrup Urine Disease / drug therapy*
  • Seizures / etiology*
  • Thiamine / therapeutic use*

Substances

  • Amino Acids, Branched-Chain
  • Thiamine