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Investigations

Authoring team

The diagnosis is often suspected because of the peculiar odour of maple syrup found in the urine and sweat.

  • analysis of amino acid plasma concentrations reveals:
    • raised levels of leucine, isoleucine, valine and alloisoleucine - latter is an amino acid that is not usually found in the bloodstream.
  • leucine level in the plasma is usually higher than the other three amino acids.

  • urinanalysis - high levels of leucine, isoleucine and valine - the ketoacids of these amino acids are also raised.

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