Management
Guidelines
Portal
MSUD Nutrition Management Guidelines
First Edition
February 2013, v.1.46
Current version: v.2.0
Updated: May 2014
Feedback/Comments :: View Release Notes
Send us your Feedback & Comments
This version is not current. Click to view the most recent edition (v.2.0, May 2014).
References

Analyzed Literature
ID Reference
G.39
Acosta, P.B., Yannicelli, S. (2001). Maple Syrup Urine Disease (MSUD). In The Ross Metabolic Formula System: Nutrition support Protocols, 4th Edition (pp. 74-102). Columbus, OH: Ross Products Division, Division of Abbott Laboratories.
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
G.23
Berry, G.T. (2008, Fall). Medical Management of MSU. MSUD Family Newsletter, 25(2). Retrieved from http://www.msud-support.org/index.php?view=category&id=46%3Avolume-25-2&option=com_content&Itemid=5
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
G.48
Bodamer, O.A. (2010). Overview of Maple Syrup Urine Disease. Retrieved from UpToDate, Inc website www.uptodate.com
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.44
Children's Hospital of Michigan Metabolic Clinic (CHMMC), Division of Genetic and Metabolic Disorders. (2008). Maple Syrup Urine Disease Emergency Care Sick Plan. Detroit, MI: University of Michigan.
G.49
Chuang, D.T., Wynn, R.M., Shih, V.E. (2008). Maple Syrup Urine Disease (Branched-Chain Ketoaciduria). In Valle et al, The Online Metabolic and Molecular Basis of Inherited Disease (Chapter 87 pp.1-42). The McGraw-Hill Companies, Inc. 
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
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
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
Grunewald, 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
G.4
Hartnett, C. et al. (2003, July, 29). MSUD Infant/ Flax seed oil in MSUD/ Intermittent MSUD/ Leucine and Protein Comparison/ Ordering aminoacids. Message posted to Metabolic Dietician List,  <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
G.7
Hartnett, C. et al. (2009, January, 28). MSUD low leves/ 6 months MSUD/ ILE deficiency/ MSUD protocol for pregnancy/ Leucine blood spots. Message posted to Metabolic Dietician List,  <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
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
G.35
Hillman, R. (1993, Spring/Summer). Protein Malnutrition. MSUD Support Newsletter, 11(1). Retrieved from http://www.msud-support.org/index.php?option=com_content&view=article&id=33:protein-malnutrition&catid=8:volume-11-1&Itemid=5
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., Desgres, 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
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. (2006 Apr-Jun). 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. (2002 Sep-Oct). 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
G.50
Marriage, B. (2010). Nutrition Management of Patients with Inherited Disorders of Branched- Chain Amino Acid Metabolism. In P.B. Acosta, Nutrition Management of Patients with Inherited Metabolic Disorders (pp. 175-236). Sudbury, MA: Jones and Bartlett Publishers.
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.31
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 http://www.msud-support.org/index.php?view=category&id=40%3Avolume-22-2&option=com_content&Itemid=5
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 Children’s Hospital Boston. (2006). Acute Illness Protocol. Boston, MA: Author.
G.82
New England Consortium. Acute Illness Protocol Organic Acidemias, Maple Syrup Urine Disease (MSUD).  Retrieved from http://newenglandconsortium.org/protocols/acute_illness/organic_acid_disorders/maple-syrup-urine-disease.pdf
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
F.71
Ozturk, Y. (2008 May-Jun). 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
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
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
F.87
Ring, E., Zobel, G., & Stockler, 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
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
Schonberger, 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. (2005 Jan-Mar). 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
G.33
Singh, R. (1994, Fall/Winter). Update of Nutrition Management of MSUD. MSUD Support Newsletter, 12(2). Retrieved from http://www.msud-support.org/index.php?option=com_content&view=article&id=64:update-of-nutrition-management-of-msud&catid=15:volume-12-2&Itemid=5
G.26
Singh, R.H. (1999, April). Advances in Nutrition Management of Patients with MSUD [PowerPoint slides]. Paper presented at the 7th Abbott Nutrition Advances in Management of Inherited Metabolic Disorders. Washington, District of Columbia.
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
G.43
Strauss, K.A, Puffenberger,E.G., Morton, D.H. (2006). Maple Syrup Urine Disease. In Pagon R.A., Bird T.D., Dolan C.R., Stephens K., Adam M.P., editors, GeneReviews™. Seattle, WA: University of Washington, Seattle.
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
Tabanlio?lu, D., Ersoy-Evans, S., & Karaduman, A. (2009 Mar-Apr). 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. (1996 Sep-Oct). 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., & Hohn, 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
G.5
Thompson, S. et al. (2006, August, 17). Intermediate MSUD and Breast feeding/ MSUD Baby/ Calories for MSUD patient/ MSUD (new dx- for newborn). Message posted to Metabolic Dietician List,  <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
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.3
Ueda, K. et al. (2001, August, 3). MSUD "wobblies"/ MSUD and Carnation Good Start/ BTK Deficiency or Allstrom Syndrome Diet/ E-3 Component Deficiency. Message posted to Metabolic Dietician List,  <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
G.27
Van Calcar, S. (2003, MONTH). Diet Treatment for Maple Syrup Urine Disease (MSUD) [PowerPoint slides]. Paper presented at the 9th Abbott Nutrition Advances in Management of Inherited Metabolic Disorders.
G.6
Van Calcar, S. et al. (2008, March, 21). Maternal MSUD/ Beta keto thiolase deficiency/ MSUD infant/ Mild MSUD and Protein restriction/ MSUD essential fatty acid intake . Message posted to Metabolic Dietician List,  <PNO-METAB-L@LISTSERV.CC.EMORY.EDU>
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. (2003 Jul-Aug). 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
G.21
Wasserstein, M.P. (2006, Winter). Medical Therapy for Maple Syrup Urine Disease. MSUD Family Newsletter, 23(1). Retrieved fromhttp://www.msud-support.org/index.php?view=article&catid=41%3Avolume-23-1&id=314%3Amedical-therapy-for-maple-syrup-urine-disease&option=com_content&Itemid=5
G.30
Wendel, U. (2004/05, Winter). Diagnostics and Treatment of MSUD in Germany. MSUD Support Newsletter, 22(1). Retrieved from http://www.msud-support.org/index.php?view=category&id=39%3Avolume-22-1&option=com_content&Itemid=5
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. The National Academies Collection: Reports funded by National Institutes of Health. 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

© 2006-2015   —   SOUTHEAST REGIONAL GENETICS NETWORK   —   A HRSA SUPPORTED PARTNERSHIP   —   GRANT #UH7MC30772