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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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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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