MSUD Nutrition Management Guidelines
First Edition
February 2013, v.1.58
Updated: June 2021
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Analyzed Literature
ID Reference
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Giacoia, G.P., & Berry, G.T. (Sep 1993). Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease. Am J Dis Child, 147, 954-6. doi:10.1001/archpedi.1993.02160330044015
Grünewald, S., Hinrichs, F., & Wendel, U. (Apr 1998). Pregnancy in a woman with maple syrup urine disease. J Inherit Metab Dis, 21, 89-94. doi:10.1023/a:1005396823030
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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
Henriquez, H., el Din, A., Ozand, P.T., Subramanyam, S.B., & al Gain, S.I. (Nov 1994). Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). Brain Dev, 16 Suppl, 86-93. doi:10.1016/0387-7604(94)90101-5
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Hillman, R. (1993, Spring/Summer). Protein Malnutrition. MSUD Support Newsletter, 11(1). Retrieved from
Hmiel, S.P., Martin, R.A., Landt, M., Levy, F.H., & Grange, D.K. (May 2004). Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration. Pediatr Crit Care Med, 5, 278-81. doi:10.1097/01.pcc.0000113265.92664.91
Hoffmann, B., Helbling, C., Schadewaldt, P., & Wendel, U. (Jan 2006). Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. Pediatr Res, 59, 17-20. doi:10.1203/01.pdr.0000190571.60385.34
Huner, G., Baykal, T., Demir, F., & Demirkol, M. (2005). Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. J Inherit Metab Dis, 28, 457-65. doi:10.1007/s10545-005-0457-3
Jan, D., Poggi, F., Laurent, J., Rabier, D., Jouvet, P., Lacaille, F., Beringer, A., Hubert, P., Revillon, Y., & Saudubray, J.M. (Feb 1994). Liver transplantation: new indications in metabolic disorders?. Transplant Proc, 26(1):189-90.
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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, 46-50. doi:10.1016/s0022-3476(05)81037-6
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Koch, S.E., Packman, S., Koch, T.K., & Williams, M.L. (Feb 1993). Dermatitis in treated maple syrup urine disease. J Am Acad Dermatol, 28, 289-92. doi:10.1016/0190-9622(93)70036-s
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, 177-8. doi:10.1023/a:1005324516186
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, 21-45. doi:10.3109/00207459408986065
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
Lee, P.J. (2006 Apr-Jun). Pregnancy issues in inherited metabolic disorders. J Inherit Metab Dis, 29, 311-6. doi:10.1007/s10545-005-0252-1
Levin, M.L., Scheimann, A., Lewis, R.A., & Beaudet, A.L. (Jan 1993). Cerebral edema in maple syrup urine disease. J Pediatr, 122, 167-8. doi:10.1016/s0022-3476(05)83521-8
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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McMahon, Y., & MacDonnell, R.C. (1990). Clearance of branched chain amino acids by peritoneal dialysis in maple syrup urine disease. Adv Perit Dial, 6:31-4.
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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, 999-1008. doi:10.1542/peds.109.6.999
Morton, H. (1992, Fall).  MSUD news from The Clinic for Special Children.  MSUD Family Newsletter, 10(2).  Retrieved from
MSUD The New England Consortium of Metabolic Programs at Children’s Hospital Boston. (2006). Acute Illness Protocol. Boston, MA: Author.
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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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Nyhan, W.L., Rice-Kelts, M., Klein, J., & Barshop, B.A. (Jun 1998). Treatment of the acute crisis in maple syrup urine disease. Arch Pediatr Adolesc Med, 152, 593-8. doi:10.1001/archpedi.152.6.593
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