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Maple syrup urine disease (MSUD)

The test used to screen for MSUD is leucine/isoleucine/alloisoleucine, which is measured by tandem mass spectrometry.

Initial clinical investigation, follow-up and treatment are carried out by the metabolic team at RMCH.

In the case of a positive MSUD result on screening, the family is contacted by the metabolic team and the baby attends RMCH the same day for clinical assessment and diagnostic testing. If the baby is acutely unwell then an urgent admission will be required.

Diagnostic testing includes analysis of urine organic acids and blood amino acids.