Division of Chemistry and Toxicology
	Maple Syrup Urine Disease Unit

		Maple syrup urine disease (MSUD) is the result of a biochemical defect in branched chain amino acid decarboxylation at the keto acid level. The disease results in severe symptoms beginning as early as 6 days of age which can include vomiting, a constant shrill cry, and loss of appetite, and which may be followed by convulsions, coma, and respiratory problems. The high blood levels of keto acids can contribute to defective myelin formation. In general, untreated children expire at a few months of age. On the other hand, the child who is discovered early to have the disease and treated with a special diet will suffer probable frequent otitis media and respiratory infections, but otherwise will be able to live a normal life while maintaining a special diet.

 

	Principles of the Test
		MSUD is screened for by assaying leucine levels in the blood stream.  This procedure manufactured by Perkin Elmer Wallac, Inc. is a fluorometric assay that measures leucine and other branched chain amino acids, using a series of enzymatic reactions in a microplate format. Eleanor Stanley, MT (ASCP), Unit Manager Phone: 517-335-9599 stanleye@state.mi.us