Neuropsychometric outcome predictors for adults with maple syrup urine disease

J Inherit Metab Dis. 2006 Feb;29(1):201-2. doi: 10.1007/s10545-006-0223-1.


We describe 14 adult MSUD patients (3 with intermediate MSUD) with varied clinical and neuropsychometric outcomes. Age at diagnosis appears to be a predictor of IQ even in adults, while long-term blood leucine does not correlate with IQ.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Amino Acids, Branched-Chain / blood
  • Female
  • Humans
  • Intelligence Tests
  • Male
  • Maple Syrup Urine Disease / diagnosis*
  • Maple Syrup Urine Disease / physiopathology*
  • Neuropsychological Tests
  • Treatment Outcome


  • Amino Acids, Branched-Chain