MSUD Nutrition Management Guidelines
First Edition
February 2013, v.1.50
Current version: v.1.58
Updated: August 2016
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Analyzed Literature

ID Reference
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Ellerine, N.P., Herring, W.J., Elsas, L.J., McKean, M.C., Klein, P.D., & Danner, D.J. (Jun 1993). Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase. Biochem. Med. Metab. Biol., 49(3):363-74.
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Heldt, K., Schwahn, B., Marquardt, I., Grotzke, M., & Wendel, U. (Apr 2005). Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification. Mol. Genet. Metab., 84, 313-6. doi:10.1016/j.ymgme.2004.11.010
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Hilliges, C., Awiszus, D., & Wendel, U. (Feb 1993). Intellectual performance of children with maple syrup urine disease. Eur. J. Pediatr., 152(2):144-7.
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Jouvet, P., Jugie, M., Rabier, D., Desgrès, J., Hubert, P., Saudubray, J.M., & Man, N.K. (Nov 2001). Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease. Intensive Care Med, 27, 1798-806. doi:10.1007/s00134-001-1124-2
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Kaplan, P., Mazur, A., Field, M., Berlin, J.A., Berry, G.T., Heidenreich, R., Yudkoff, M., & Segal, S. (Jul 1991). Intellectual outcome in children with maple syrup urine disease. J. Pediatr., 119(1 Pt 1):46-50.
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Khanna, A., Hart, M., Nyhan, W.L., Hassanein, T., Panyard-Davis, J., & Barshop, B.A. (May 2006). Domino liver transplantation in maple syrup urine disease. Liver Transpl., 12, 876-82. doi:10.1002/lt.20744
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Koga, Y., Iwanaga, T., Yoshida, I., Yoshino, M., Kaneko, S., & Kato, H. (Apr 1998). Maple syrup urine disease: nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip. J. Inherit. Metab. Dis., 21(2):177-8.
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Korein, J., Sansaricq, C., Kalmijn, M., Honig, J., & Lange, B. (Nov 1994). Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity. Int. J. Neurosci., 79(1-2):21-45.
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le Roux, C., Murphy, E., Hallam, P., Lilburn, M., Orlowska, D., & Lee, P. (Feb 2006). Neuropsychometric outcome predictors for adults with maple syrup urine disease. J. Inherit. Metab. Dis., 29, 201-2. doi:10.1007/s10545-006-0223-1
le Roux, C., Murphy, E., Lilburn, M., & Lee, P.J. (Feb 2006). The longest-surviving patient with classical maple syrup urine disease. J. Inherit. Metab. Dis., 29, 190-4. doi:10.1007/s10545-006-0204-4
Lee, J.Y., Chiong, M.A., Estrada, S.C., Cutiongco-De la Paz, E.M., Silao, C.L., & Padilla, C.D. (Dec 2008). Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients. J. Inherit. Metab. Dis., 31 Suppl 2, S281-5. doi:10.1007/s10545-008-0859-0
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Lin, M.C., Chen, C.H., Fu, L.S., Jan, S.L., Shu, S.G., & Chi, C.S. (2002 Sep-Oct). Management of acute decompensation of neonatal maple syrup urine disease with continuous arteriovenous haemofiltration: report of one case. Acta Paediatr Taiwan, 43(5):281-4.
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Morton, D.H., Strauss, K.A. (2005, Summer). Liver transplant as treatment for maple syrup disease: our perspective as pediatricians. MSUD Support Newsletter, 22(2). Retrieved from
Morton, D.H., Strauss, K.A., Robinson, D.L., Puffenberger, E.G., & Kelley, R.I. (Jun 2002). Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics, 109(6):999-1008.
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Northrup, H., Sigman, E.S., & Hebert, A.A. (Mar 1993). Exfoliative erythroderma resulting from inadequate intake of branched-chain amino acids in infants with maple syrup urine disease. Arch Dermatol, 129(3):384-5.
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