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MSUD Nutrition Management Guidelines
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February 2013, v.1.32
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Updated: May 2013
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References

Analyzed Literature
ID Reference
G.50
Barbara Marriage (2010). Book: Nutrition Management of Patients with Inherited Metabolic Disorders Chapter 6.. Book: Nutrition Management of Patients with Inherited Metabolic Disorders. Phyllis Acosta, editor Chapter 6.
F.38
Barshop, B.A., & Khanna, A., (Dec, 2005). Domino hepatic transplantation in maple syrup urine disease.. The New England journal of medicine, 353, 2410-1. doi:10.1056/NEJM200512013532220
F.615
Berry, G.T., Heidenreich, R., Kaplan, P., Levine, F., Mazur, A., Palmieri, M.J., Yudkoff, M., & Segal, S., (Jan, 1991). Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease.. The New England journal of medicine, 324, 175-9. doi:10.1056/NEJM199101173240307
F.124
Biggemann, B., Zass, R., & Wendel, U., (1993). Postoperative metabolic decompensation in maple syrup urine disease is completely prevented by insulin.. Journal of inherited metabolic disease, 16(5):912-3.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8295418
F.53
Bodner-Leidecker, A., Wendel, U., Saudubray, J.M., & Schadewaldt, P., (Dec, 2000). Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation.. Journal of inherited metabolic disease, 23(8):805-18.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11196106
G.31
D. Holmes Morton, MD and Kevin A. Strauss, MD (Summer 2005). Liver Transplant as treatment for maple syrup disease:our perspective as pediatricians. MSUD Family Newsletter Vol.22 No.2.
F.114
Danner, D.J., Wheeler, F.B., Lemmon, S.K., & Elsas, L.J., (Mar, 1978). In vivo and in vitro response of human branched chain alpha-ketoacid dehydrogenase to thiamine and thiamine pyrophosphate.. Pediatric research, 12, 235-8. doi:10.1203/00006450-197803000-00016
G.49
David T. Chuang, R. Max Wynn, Vivian E.Shih (Revised - November 2008). Chapter 87: Maple Syrup Urine Disease (Branched-Chain Ketoaciduria). The Online Metabolic and Molecular Basis of Inherited Disease.
F.83
Dixon, M.A., & Leonard, J.V., (Nov, 1992). Intercurrent illness in inborn errors of intermediary metabolism.. Archives of disease in childhood, 67(11):1387-91.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1471895
F.127
Duran, M., & Wadman, S.K., (1985). Thiamine-responsive inborn errors of metabolism.. Journal of inherited metabolic disease, 8 Suppl 1:70-5.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/3930844
F.113
Duran, M., Tielens, A.G., Wadman, S.K., Stigter, J.C., & Kleijer, W.J., (May, 1978). Effects of thiamine in a patient with a variant form of branched-chian ketoaciduria.. Acta paediatrica Scandinavica, 67(3):367-72.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/654914
F.82
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.. Biochemical medicine and metabolic biology, 49(3):363-74.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8347380
F.101
Elsas, L.J., Ellerine, N.P., & Klein, P.D., (May, 1993). Practical methods to estimate whole body leucine oxidation in maple syrup urine disease.. Pediatric research, 33, 445-51. doi:10.1203/00006450-199305000-00005
F.109
Fernhoff, P.M., Lubitz, D., Danner, D.J., Dembure, P.P., Schwartz, H.P., Hillman, R., Bier, D.M., & Elsas, L.J., (Oct, 1985). Thiamine response in maple syrup urine disease.. Pediatric research, 19, 1011-6. doi:10.1203/00006450-198510000-00012
F.29
Fuentes-Garcia, D., & Falcon-Arana, L., (Jan, 2009). Perioperative management of a patient with maple syrup urine disease.. British journal of anaesthesia, 102, 144-5. doi:10.1093/bja/aen341
G.23
Gerard T. Berry, MD (Fall 2008). Medical Management of MSUD. MSUD Family Newsletter Vol. 25 No. 2.
F.100
Giacoia, G.P., & Berry, G.T., (Sep, 1993). Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease.. American journal of diseases of children (1960), 147(9):954-6.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8362810
F.78
Grünewald, S., Hinrichs, F., & Wendel, U., (Apr, 1998). Pregnancy in a woman with maple syrup urine disease.. Journal of inherited metabolic disease, 21(2):89-94.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9584259
F.611
Heldt, K., Schwahn, B., Marquardt, I., Grotzke, M., & Wendel, U., (Apr, 2005). Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification.. Molecular genetics and metabolism, 84, 313-6. doi:10.1016/j.ymgme.2004.11.010
F.80
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 & development, 16 Suppl:86-93.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7726386
F.612
Hilliges, C., Awiszus, D., & Wendel, U., (Feb, 1993). Intellectual performance of children with maple syrup urine disease.. European journal of pediatrics, 152(2):144-7.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8444223
F.45
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.. Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies, 5(3):278-81.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/15115568
F.37
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.. Pediatric research, 59, 17-20. doi:10.1203/01.pdr.0000190571.60385.34
F.663
Huner, G., Baykal, T., Demir, F., & Demirkol, M., (2005). Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.. Journal of inherited metabolic disease, 28, 457-65. doi:10.1007/s10545-005-0457-3
F.63
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?. Transplantation proceedings, 26(1):189-90.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8108935
F.73
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 medicine, 27, 1798-806. doi:10.1007/s00134-001-1124-2
F.79
Jouvet, P., Poggi, F., Rabier, D., Michel, J.L., Hubert, P., Sposito, M., Saudubray, J.M., & Man, N.K., (Aug, 1997). Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease.. Journal of inherited metabolic disease, 20(4):463-72.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9266382
F.69
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.. The Journal of pediatrics, 119(1 Pt 1):46-50.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2066858
G.43
Kevin A Strauss, Erik G Puffenberger, D Holmes Morton (1/30/2006). GeneReviews: MSUD. Authors: Clinic for Special Children, Strasburg, PA Document: GeneReviews -- University of Washington and NCBI Bookshelf.
F.23
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 transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 12, 876-82. doi:10.1002/lt.20744
F.68
Koch, S.E., Packman, S., Koch, T.K., & Williams, M.L., (Feb, 1993). Dermatitis in treated maple syrup urine disease.. Journal of the American Academy of Dermatology, 28(2 Pt 2):289-92.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8436640
F.77
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.. Journal of inherited metabolic disease, 21(2):177-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9584272
F.614
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.. The International journal of neuroscience, 79(1-2):21-45.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7744549
F.24
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.. Journal of inherited metabolic disease, 29, 201-2. doi:10.1007/s10545-006-0223-1
F.26
le Roux, C., Murphy, E., Lilburn, M., & Lee, P.J., (Feb, 2006). The longest-surviving patient with classical maple syrup urine disease.. Journal of inherited metabolic disease, 29, 190-4. doi:10.1007/s10545-006-0204-4
F.20
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.. Journal of inherited metabolic disease, 31 Suppl 2, S281-5. doi:10.1007/s10545-008-0859-0
F.616
Lee, P.J. (). Pregnancy issues in inherited metabolic disorders.. Journal of inherited metabolic disease, 29, 311-6. doi:10.1007/s10545-005-0252-1
F.72
Levin, M.L., Scheimann, A., Lewis, R.A., & Beaudet, A.L., (Jan, 1993). Cerebral edema in maple syrup urine disease.. The Journal of pediatrics, 122(1):167-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8419609
F.93
Lin, M.C., Chen, C.H., Fu, L.S., Jan, S.L., Shu, S.G., & Chi, C.S., (). Management of acute decompensation of neonatal maple syrup urine disease with continuous arteriovenous haemofiltration: report of one case.. Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 43(5):281-4.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12607485
F.105
McMahon, Y., & MacDonnell, R.C., (1990). Clearance of branched chain amino acids by peritoneal dialysis in maple syrup urine disease.. Advances in peritoneal dialysis. Conference on Peritoneal Dialysis, 6:31-4.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1982835
G.21
Melissa P. Wasserstein, MD (Winter 2006). Medical Therapy for Maple Syrup Urine Disease. MSUD Family Newsletter Vol 23 No. 1.
F.51
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.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12042535
G.47
MSUD The New England Consortium of Metabolic Programs at Children̢۪s Hospital Boston (last updated 09/06/2006). Acute Illness Protocol. MSUD The New England Consortium of Metabolic Programs at Children̢۪s Hospital Boston.
G.3
Multiple Authors (11-02-2002 through 09-08-2009). PNO-Metab-Listserv Posts 3. PNO-Metab-Listserv: Listserv for Registered Metabolic Dietitians.
G.4
Multiple Authors (11-02-2002 through 09-08-2009). PNO-Metab-Listserv Posts 4. PNO-Metab-Listserv: Listserv for Registered Metabolic Dietitians.
G.5
Multiple Authors (11-02-2002 through 09-08-2009). PNO-Metab-Listserv Posts 5. PNO-Metab-Listserv: Listserv for Registered Metabolic Dietitians.
G.6
Multiple Authors (11-02-2002 through 09-08-2009). PNO-Metab-Listserv Posts 6. PNO-Metab-Listserv: Listserv for Registered Metabolic Dietitians.
G.7
Multiple Authors (11-02-2002 through 09-08-2009). PNO-Metab-Listserv Posts 7. PNO-Metab-Listserv: Listserv for Registered Metabolic Dietitians.
F.67
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.. Archives of dermatology, 129(3):384-5.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8447687
F.76
Nyhan, W.L., Rice-Kelts, M., Klein, J., & Barshop, B.A., (Jun, 1998). Treatment of the acute crisis in maple syrup urine disease.. Archives of pediatrics & adolescent medicine, 152(6):593-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9641714
G.48
Olaf A Bodamer (January 2010; This topic last updated: J). UpToDate: MSUD. Author: Universitätsklinik für Kinder- und Jugendheilkunde Paracelsus Medizinische Universität Salzburg, Austria Publisher: UpToDate.
F.71
Oztürk, Y. (). Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency in inborn errors of metabolism.. Pediatric dermatology, 25, 415. doi:10.1111/j.1525-1470.2008.00707.x
F.81
Parini, R., Sereni, L.P., Bagozzi, D.C., Corbetta, C., Rabier, D., Narcy, C., Hubert, P., & Saudubray, J.M., (Aug, 1993). Nasogastric drip feeding as the only treatment of neonatal maple syrup urine disease.. Pediatrics, 92(2):280-3.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8337030
F.126
Parsons, H.G., Carter, R.J., Unrath, M., & Snyder, F.F., (1990). Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria.. Journal of inherited metabolic disease, 13(2):125-36.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2116544
G.39
PB Acosta/S Yannicelli (2001). Nutrition support Protocols, 4th ed. Ross Metabolic System.
G.30
Prof. Dr. Udo Wendel (Winter 2004/2005). Diagnostics and Treatment of MSUD in Germany. MSUD Family Newsletter Vol. 22 No. 1.
F.52
Puliyanda, D.P., Harmon, W.E., Peterschmitt, M.J., Irons, M., & Somers, M.J., (Apr, 2002). Utility of hemodialysis in maple syrup urine disease.. Pediatric nephrology (Berlin, Germany), 17, 239-42. doi:10.1007/s00467-001-0801-2
G.26
Rani H Singh, PhD, RD (1999). Advances in Nutrition Management of Patients with MSUD. Presentation, 7th Abbott Nutrition Advances in Management of Inherited Metabolic Disorders.
G.33
Rani Singh, PhD (December 1994). Update of Nutrition Management of MSUD. MSUD Family Newsletter Vol. 12 No. 2.
F.47
Riazi, R., Rafii, M., Clarke, J.T., Wykes, L.J., Ball, R.O., & Pencharz, P.B., (Jul, 2004). Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine.. American journal of physiology. Endocrinology and metabolism, 287, E142-9. doi:10.1152/ajpendo.00431.2003
G.35
Richard Hillman, MD (April 17,1993). Protein Malnutrition. MSUD Family Newsletter Vol.11 No.1.
F.87
Ring, E., Zobel, G., & Stöckler, S., (Aug, 1990). Clearance of toxic metabolites during therapy for inborn errors of metabolism.. The Journal of pediatrics, 117(2 Pt 1):349-50.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2380843
F.85
Riviello, J.J., Rezvani, I., DiGeorge, A.M., & Foley, C.M., (Jul, 1991). Cerebral edema causing death in children with maple syrup urine disease.. The Journal of pediatrics, 119(1 Pt 1):42-5.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2066857
F.89
Ross, L.F. (Jan, 2010). An ethical and policy analysis of elective transplantation for metabolic conditions diagnosed by newborn screening.. The Journal of pediatrics, 156, 139-44. doi:10.1016/j.jpeds.2009.06.067
F.88
Rutledge, S.L., Havens, P.L., Haymond, M.W., McLean, R.H., Kan, J.S., & Brusilow, S.W., (Jan, 1990). Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism.. The Journal of pediatrics, 116(1):125-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2295952
G.27
Sandy van Calcar, MS,RD (2003). Diet Treatment for Maple Syrup Urine Disease (MSUD). Presentation - 9th Abbott Nutrition Advances in Management of Inherited Metabolic Disorders.
F.75
Schaefer, F., Straube, E., Oh, J., Mehls, O., & Mayatepek, E., (Apr, 1999). Dialysis in neonates with inborn errors of metabolism.. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 14(4):910-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10328469
F.46
Schönberger, S., Schweiger, B., Schwahn, B., Schwarz, M., & Wendel, U., (May, 2004). Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease.. Molecular genetics and metabolism, 82, 69-75. doi:10.1016/j.ymgme.2004.01.016
F.119
Scriver, C.R., Mackenzie, S., Clow, C.L., & Delvin, E., (Feb, 1971). Thiamine-responsive maple-syrup-urine disease.. Lancet, 1(7694):310-2.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/4100151
F.422
Shellmer, D.A., DeVito Dabbs, A., Dew, M.A., Noll, R.B., Feldman, H., Strauss, K.A., Morton, D.H., Vockley, J., & Mazariegos, G.V., (Feb, 2011). Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series.. Pediatric transplantation, 15, 58-64. doi:10.1111/j.1399-3046.2010.01411.x
F.21
Simon, E., Flaschker, N., Schadewaldt, P., Langenbeck, U., & Wendel, U., (Dec, 2006). Variant maple syrup urine disease (MSUD)--the entire spectrum.. Journal of inherited metabolic disease, 29, 716-24. doi:10.1007/s10545-006-0276-1
F.91
Simon, E., Wendel, U., & Schadewaldt, P., (). Maple syrup urine disease-treatment and outcome in patients of Turkish descent in Germany.. The Turkish journal of pediatrics, 47(1):8-13.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/15884622
F.65
Skladal, D., Grissenauer, G., Konstantopoulou, V., Felber, S., & Sperl, W., (Jul, 2000). Very high plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease.. Journal of inherited metabolic disease, 23(5):513-4.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10947206
F.613
Strauss, K.A., & Morton, D.H., (Jul, 2003). Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease.. Current treatment options in neurology, 5(4):329-341.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12791200
F.35
Strauss, K.A., Mazariegos, G.V., Sindhi, R., Squires, R., Finegold, D.N., Vockley, G., Robinson, D.L., Hendrickson, C., Virji, M., Cropcho, L., Puffenberger, E.G., McGhee, W., Seward, L.M., & Morton, D.H., (Mar, 2006). Elective liver transplantation for the treatment of classical maple syrup urine disease.. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 6, 557-64. doi:10.1111/j.1600-6143.2005.01209.x
F.426
Strauss, K.A., Wardley, B., Robinson, D., Hendrickson, C., Rider, N.L., Puffenberger, E.G., Shellmer, D., Shelmer, D., Moser, A.B., & Morton, D.H., (Apr, 2010). Classical maple syrup urine disease and brain development: principles of management and formula design.. Molecular genetics and metabolism, 99, 333-45. doi:10.1016/j.ymgme.2009.12.007
F.28
TabanlioÄŸlu, D., Ersoy-Evans, S., & Karaduman, A., (). Acrodermatitis enteropathica-like eruption in metabolic disorders: acrodermatitis dysmetabolica is proposed as a better term.. Pediatric dermatology, 26, 150-4. doi:10.1111/j.1525-1470.2008.00803.x
F.122
Tain, Y.L., Huang, S.C., Hung, F.C., Wang, H.S., & Sun, P.C., (). Acrodermatitis enteropathica-like eruption during treatment of maple syrup urine disease: report of one case.. Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui, 37(5):357-60.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8942030
F.423
Thimm, E., Hadzik, B., & Höhn, T., (Jul, 2010). Continuous venovenous hemofiltration rapidly lowers toxic metabolites in a patient with MSUD and imminent cerebral herniation.. Klinische Pädiatrie, 222, 264-5. doi:10.1055/s-0030-1247508
F.86
Thompson, G.N., Butt, W.W., Shann, F.A., Kirby, D.M., Henning, R.D., Howells, D.W., & Osborne, A., (Jun, 1991). Continuous venovenous hemofiltration in the management of acute decompensation in inborn errors of metabolism.. The Journal of pediatrics, 118(6):879-84.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2040923
F.96
Tornqvist, K., & Tornqvist, H., (1996). Corneal deepithelialization caused by acute deficiency of isoleucine during treatment of a patient with maple syrup urine disease.. Acta ophthalmologica Scandinavica. Supplement, (219):48-9.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8741119
F.125
Treacy, E., Clow, C.L., Reade, T.R., Chitayat, D., Mamer, O.A., & Scriver, C.R., (1992). Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination.. Journal of inherited metabolic disease, 15(1):121-35.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1583867
G.82
Unavailable (Undated). Acute Illness Protocol Organic Acidemias Maple Syrup Urine Disease (MSUD). New England Consortium.
G.44
University of Michigan (2008). University of Michigan Emergency Management Protocol. Region 4 Genetics website.
F.102
Van Calcar, S.C., Harding, C.O., Davidson, S.R., Barness, L.A., & Wolff, J.A., (Nov, 1992). Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.. American journal of medical genetics, 44, 641-6. doi:10.1002/ajmg.1320440523
F.92
Wang, I.J., Chu, S.Y., Wang, C.Y., Wang, P.J., & Hwu, W.L., (). Maple syrup urine disease presenting with neonatal status epilepticus: report of one case.. Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 44(4):246-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14674232
F.54
Wendel, U., Saudubray, J.M., Bodner, A., & Schadewaldt, P., (Dec, 1999). Liver transplantation in maple syrup urine disease.. European journal of pediatrics, 158 Suppl 2:S60-4.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10603101
F.49
Yoshida, S., & Tanaka, T., (Apr, 2003). Postpartum death with maple syrup urine disease.. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics, 81(1):57-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12676398
F.66
Yoshino, M., Aoki, K., Akeda, H., Hashimoto, K., Ikeda, T., Inoue, F., Ito, M., Kawamura, M., Kohno, Y., Koga, Y., Kuroda, Y., Maesaka, H., Murakamisoda, H., Sugiyama, N., Suzuki, Y., Yano, S., & Yoshioka, A., (Apr, 1999). Management of acute metabolic decompensation in maple syrup urine disease: a multi-center study.. Pediatrics international : official journal of the Japan Pediatric Society, 41(2):132-7.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10221014

Reference Materials
ID Reference
L.1
Baykal, T., Karaaslan, I., Gokcay, G., Demir, F., Laleli, Y., & Demirkol, M., (2004). Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry.. Journal of inherited metabolic disease, 27(6):781-2.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/15617190
L.5
Brunetti-Pierri, N., Lanpher, B., Erez, A., Ananieva, E.A., Islam, M., Marini, J.C., Sun, Q., Yu, C., Hegde, M., Li, J., Wynn, R.M., Chuang, D.T., Hutson, S., & Lee, B., (Feb, 2011). Phenylbutyrate therapy for maple syrup urine disease.. Human molecular genetics, 20, 631-40. doi:10.1093/hmg/ddq507
Y.6
Diaz G (2011). Oxidative Stress. MSUD Support Newsletter 29-1 (2011).
L.8
Institute of Medicine (US) Food Forum (2010). Providing Healthy and Safe Foods As We Age: Workshop Summary. Washington (DC): National Academies Press (US).
Y.4
Lee, B (2010). Development of New Treatments for Some Forms of MSUD. MSUD Support Newsletter 27-1 (2010).
Y.3
Lee, B (2010). Research Update: Treatment of MSUD with Phenylbutyrate. MSUD Support Newsletter 28-2 (2010).
L.4
Scaini, G., Teodorak, B.P., Jeremias, I.C., Morais, M.O., Mina, F., Dominguini, D., Pescador, B., Comim, C.M., Schuck, P.F., Ferreira, G.C., Quevedo, J., & Streck, E.L., (May, 2012). Antioxidant administration prevents memory impairment in an animal model of maple syrup urine disease.. Behavioural brain research, 231, 92-6. doi:10.1016/j.bbr.2012.03.004
L.6
Skvorak, K.J., Hager, E.J., Arning, E., Bottiglieri, T., Paul, H.S., Strom, S.C., Homanics, G.E., Sun, Q., Jansen, E.E., Jakobs, C., Zinnanti, W.J., & Gibson, K.M., (Oct, 2009). Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD).. Biochimica et biophysica acta, 1792, 1004-10. doi:10.1016/j.bbadis.2009.08.006
Y.2
Unknown (2003). Thiamine Risk Assessment. Food Standard Agency in UK.
Y.7
Zinnanti W (2011). New Research for Prevention and Treatment of Brain Injury in MSUD. MSUD Support Newsletter 29-2 (2011).
L.7
Zinnanti, W.J., Lazovic, J., Griffin, K., Skvorak, K.J., Paul, H.S., Homanics, G.E., Bewley, M.C., Cheng, K.C., Lanoue, K.F., & Flanagan, J.M., (Apr, 2009). Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease.. Brain : a journal of neurology, 132, 903-18. doi:10.1093/brain/awp024

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