Maple syrup urine disease (branched-chain keto-aciduria) variant type manifesting as hyperkinetic behaviour and mental retardation. Report of two cases

J Neurol Sci. 1972 Feb;15(2):209-17. doi: 10.1016/0022-510x(72)90008-1.
No abstract available

MeSH terms

  • Child, Preschool
  • Humans
  • Hyperkinesis / etiology*
  • Intellectual Disability / etiology*
  • Isoleucine / blood
  • Keto Acids / blood
  • Keto Acids / urine
  • Leucine / blood
  • Male
  • Maple Syrup Urine Disease / blood
  • Maple Syrup Urine Disease / complications*
  • Maple Syrup Urine Disease / genetics
  • Maple Syrup Urine Disease / urine
  • Pedigree
  • Pyruvates / blood
  • Valine / blood

Substances

  • Keto Acids
  • Pyruvates
  • Isoleucine
  • Leucine
  • Valine