maple syrup urine disease (intermittent)

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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.

Last reviewed 01/2018