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Maple syrup urine disease (intermittent)

Authoring team

Children affected by this condition are seemingly normal. They subsequently develop vomiting, ataxia, odour of maple syrup, lethargy, and coma during stress such as infection or surgery.

Investigations during attacks reveal:

  • raised plasma levels of leucine, isoleucine and valine. Alloisoleucine, a stereoisomer of isoleucine not normally found in the blood, is present.
  • urine analysis - raised levels of leucine, isoleucine, and valine; also there are raised levels of the ketoacids of these amino acids.

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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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