Abstract
Maple syrup urine disease (MSUD), also known as branched-chain ketoaciduria, was first described by Menkes et al. (1954). Patients with the classic form of the disease appear normal at birth, but by the 1st week of life have feeding difficulties, vomiting, and hypertonicity. If untreated, the course is usually rapid with development of neurologic manifestations, convulsions, coma, and death. Untreated or improperly treated infants who survive will generally have severe mental and motor retardation.
Supported in part by Maternal and Child Health Services projects 417 and 435, and by National Institute of Child Health and Human Development grant HD-03967.
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Naylor, E.W. (1980). Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaciduria). In: Bickel, H., Guthrie, R., Hammersen, G. (eds) Neonatal Screening for Inborn Errors of Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67488-4_3
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DOI: https://doi.org/10.1007/978-3-642-67488-4_3
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