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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Comptroller General of the United States (1977) Report to the congress, preventing mental retardation — more can be done, HRD-77-37. United States General Accounting Office, Washington DC, p 30
Guthrie R (1964) Routine screening for inborn errors in the newborn: “Inhibition assays”, “instant bacteria” and multiple tests. In: Oster J (ed) Proceedings of the International Copenhagen Congress on the Scientific Study of Mental Retardation, Statens Åndssvage forsorg, Copenhagen, pp 495–499
Guthrie R (1972) Mass screening for genetic disease. In: Medical Genetics. Hosp Pract 7:93–100
Guthrie R, Susi A (1963) A simple phenylalanine method for detecting phenylketonuria in large propulations of newborn infants. Pediatrics 32:338–343
Irwin WC, Martel SB, Galuboff N (1971) Intermittent branched chain ketoaciduria (variant of maple syrup urine disease). Clin Biochem 4:52
Menkes JH, Hurst PL, Craig JM (1954) A new syndrome: Progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Pediatrics 14:462
National Academy of Sciences (1975) Committee for the Study of Inborn Errors of Metabolism: Genetic Screening: Programs, Principles and Research. National Academy of Sciences, Washington DC, pp 301–302
Schulman JD, Lustberg TJ, Kennedy JL et al. (1970) A new variant of maple syrup urine disease (branched-chain ketoaciduria). Am J Med 49:118
Scriver CR, MacKenzie S, Clow CL, Delvin E (1971) Thiamine responsive maple syrup urine disease. Lancet 1:310
Westall RG, Dancis J, Miller S (1975) Maple syrup urine disease: A new molecular disease. Am J Dis Child 94:571
WHO (1968) Screening for inborn errors of metabolism: Report of a WHO scientific group. WHO Tech Rep Ser 401:5–57
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1980 Springer-Verlag Berlin Heidelberg
About this paper
Cite this paper
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
Download citation
DOI: https://doi.org/10.1007/978-3-642-67488-4_3
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-67490-7
Online ISBN: 978-3-642-67488-4
eBook Packages: Springer Book Archive