References
- Chuang DT, Shih VE. Maple syrup urine disease (branced-chain ketoaciduria). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw Hill, 2001.
- Nellis MM, Kasinski A, Carlson M, Allen R, Schaefer AM, Schwartz EM, et al. Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression. Mol Genet Metab 2003;80:189-95. https://doi.org/10.1016/S1096-7192(03)00144-6
- Lee DH. The prevalence of pediatric endocrine and metabolic diseases in Korea. Korean J Pediatr 2008;51:559-63. https://doi.org/10.3345/kjp.2008.51.6.559
- Henneke M, Flaschker N, Helbling C, Muller M, Schadewaldt P, Gartner J, et al. Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. Hum Mutat 2003;22:417.
- Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, et al. Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab 2010;99:333-45. https://doi.org/10.1016/j.ymgme.2009.12.007
- Muelly ER, Moore GJ, Bunce SC, Mack J, Bigler DC, Morton DH, et al. Biochemical correlates of neuropsychiatric illness in maple syrup urine disease. J Clin Invest 2013;123:1809-20. https://doi.org/10.1172/JCI67217
- Park HD, Lee DH, Hong YH, Kang DH, Lee YK, Song J, et al. Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene. Ann Clin Lab Sci 2011;41:167-73.
- Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9. https://doi.org/10.1038/nmeth0410-248
- Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010;7:575-6. https://doi.org/10.1038/nmeth0810-575
- Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-74. https://doi.org/10.1101/gr.176601
- Simon E, Flaschker N, Schadewaldt P, Langenbeck U, Wendel U. Variant maple syrup urine disease (MSUD)--the entire spectrum. J Inherit Metab Dis 2006;29:716-24. https://doi.org/10.1007/s10545-006-0276-1
- Schadewaldt P, Bodner-Leidecker A, Hammen HW, Wendel U. Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine disease. Clin Chem 1999;45:1734-40.
- Schadewaldt P, Bodner-Leidecker A, Hammen HW, Wendel U. Wholebody L-leucine oxidation in patients with variant form of maple syrup urine disease. Pediatr Res 2001;49:627-35. https://doi.org/10.1203/00006450-200105000-00004
- Wendel U, Langenbeck U, Seakins JW. Interrelation between the metabolism of L-isoleucine and L-allo-isoleucine in patients with maple syrup urine disease. Pediatr Res 1989;25:11-4. https://doi.org/10.1203/00006450-198901000-00003
- Strauss KA, Morton DH. Branched-chain ketoacyl dehydrogenase deficiency: maple syrup disease. Curr Treat Options Neurol 2003;5:329-41. https://doi.org/10.1007/s11940-003-0039-3
- Strauss KA, Puffenberger EG, Morton DH. Maple Syrup Urine Disease. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, et al., eds. GeneReviews [Internet]. Seattle (WA): University of Washington, 1993-2014. Available from http://www.ncbi.nlm.nih.gov/books/NBK1319/
- Kaplan P, Mazur A, Field M, Berlin JA, Berry GT, Heidenreich R, et al. Intellectual outcome in children with maple syrup urine disease. J Pediatr 1991;119:46-50. https://doi.org/10.1016/S0022-3476(05)81037-6
- Simon E, Fingerhut R, Baumkötter J, Konstantopoulou V, Ratschmann R, Wendel U. Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. J Inherit Metab Dis 2006;29:532-7. https://doi.org/10.1007/s10545-006-0315-y
- Puckett RL, Lorey F, Rinaldo P, Lipson MH, Matern D, Sowa ME, et al. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms. Mol Genet Metab 2010;100:136-42. https://doi.org/10.1016/j.ymgme.2009.11.010
- Bhattacharya K, Khalili V, Wiley V, Carpenter K, Wilcken B. Newborn screening may fail to identify intermediate forms of maple syrup urine disease. J Inherit Metab Dis 2006;29:586.