Abstract
Maple syrup urine disease (MSUD; McKusick 24860) results from a defect in oxidative decarboxylation of the ketoacids derived from the branched chain amino acids (BCAA) leucine, isoleucine and valine. The outcome is related to early diagnosis and management (Clow et al., 1981; Naughten et al., 1982; Leonard et al., 1984). The diagnosis can be made in the first 48 h (Di George et al., 1982). We describe the early diagnosis and dietetic management of a neonate.
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References
Clow, C. L., Reade, T. M. and Scriver, C. R. Outcome of early and long-term management of classical maple syrup urine disease. Pediatrics 68 (1981) 856–861
Di George, A. M., Rezvani, I., Garibaldi, L. R. and Schwartz, M. Prospective study of maple-syrup urine disease for the first four days of life. N. Engl. J. Med. 307 (1982) 1492–1495
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Naughten, E. R., Jenkins, J., Francis, D. E. M. and Leonard, J. V. Outcome of maple syrup urine disease. Arch. Dis. Child. 57 (1982) 918–921s
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© 1985 SSIEM and MTP Press Limited
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Naughten, E.R., Saul, I.P., Roche, G., Mullins, C. (1985). Early Diagnosis and Dietetic Management in Newborn with Maple Syrup Urine Disease. Birth to Six Weeks. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_38
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DOI: https://doi.org/10.1007/978-94-011-8019-1_38
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-011-8021-4
Online ISBN: 978-94-011-8019-1
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