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Maple syrup urine disease (mild)

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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