The longest-surviving patient with classical maple syrup urine disease

J Inherit Metab Dis. 2006 Feb;29(1):190-4. doi: 10.1007/s10545-006-0204-4.


The clinical problems, dietary management and biochemical monitoring over a 40-year period of the longest-surviving patient with maple syrup urine disease are described. Her case illustrates that a good outcome can be obtained with early diagnosis and institution of a diet restricted in branched-chain amino acids. Changes in dietary supplementation have benefited her in terms of nutrition and quality of life. Consistently high blood concentrations of branched-chain amino acids have not been associated with neuropsychometric decline.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acids, Branched-Chain / blood
  • Dietary Supplements
  • Female
  • Follow-Up Studies
  • Humans
  • Intelligence Tests
  • Maple Syrup Urine Disease / diagnosis*
  • Maple Syrup Urine Disease / physiopathology
  • Maple Syrup Urine Disease / therapy*
  • Time Factors
  • Treatment Outcome


  • Amino Acids, Branched-Chain