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Maple syrup urine disease (mild)

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Children affected by this condition develop milder disease after the neonatal period.

Features include:

  • mildly to moderately mentally retarded.
  • increased levels of leucine, isoleucine and valine in the blood
  • excretion of ketoacids of these amino acids in the urine
  • diagnosis occurs during an intercurrent illness when clinical features such as vomiting, hypertonicity, muscular rigidity, odour of maple syrup in urine.

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