Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine, particularly prior to diagnosis, and during times of acute illness. Maple syrup urine disease can be classified by its pattern of signs and symptoms, or by its genetic cause. The disease is named for the presence of sweet-smelling urine, similar to maple syrup, The treatment of MSUD has two chief components: lifelong therapy to maintain acceptable amino acid levels in the body and immediate medical intervention for metabolic crises.
Cite this article:
Rinu J George. Maple Syrup Urine Disease: An Overview. Int. J. of Advances in Nur. Management. 2020; 8(3):253-256. doi: 10.5958/2454-2652.2020.00055.4
1. Maple syrup urine disease, genetics home reference, us national library of medicine, available at https://ghr.nlm.nih.gov/ condition/maple-syrup-urine-disease#sourcesforpage, assessed on 18/04/2020
2. Strauss KA, Puffenberger EG, Morton DH. Maple Syrup Urine Disease. 2006 Jan 30 [Updated 2013 May 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/ NBK1319/
3. Carleton SM, Peck DS, Grasela J, Dietiker KL, Phillips CL, DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities, Genet Test Mol Biomarkers. 2010 Apr;14(2):205-8. doi: 10.1089/gtmb.2009. 0107.
4. Harris-Haman P, Brown L, Massey S, Ramamoorthy S, Implications of Maple Syrup Urine Disease in Newborns, Nurs Womens Health. 2017 Jun - Jul;21(3):196-206. doi: 10.1016/j.nwh.2017.04.009.
5. Burrage LC, Nagamani SC, Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. 2014;23(R1):R1–R8. doi:10.1093/hmg/ddu123
6. Danner DJ. Maple Syrup Urine Disease. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:468-9.
7. Scriver CR, Beaudet AL, Sly WS, et al. Eds. The Metabolic Molecular Basis of Inherited Disease. 8th ed. McGraw-Hill Companies. New York, NY; 2001:1971-96.
8. Maple Syrup Urine Disease (MSUD), healthline, available at https://www.healthline.com/health/maple-syrup-urine-disease, assessed on 18//04/2020
9. In Burtis, Carl A.; Ashwood, Edward R.; Bruns, David E. (eds.). Tietz Textbook of Clinical Chemistry and Molecular Diagnostics (5th ed.). Elsevier Health Sciences. p. 2062. ISBN 978-1-4160-6164-9.
10. Maple Syrup Urine Disease, Rare Disease Database, NORD national organization of rare diseases, available at https://rarediseases.org/rare-diseases/maple-syrup-urine-disease/ assessed on 18/04/2020
11. 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
12. Strauss KA, Puffenberger EG, Morton DH. Maple Syrup Urine Disease. 2006 Jan 30 [updated 2013 May 9]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www. ncbi.nlm.nih.gov/books/NBK1319
13. Maple syrup urine diseases, liberal dictionary, available at https://www.liberaldictionary.com/maple-syrup-urine-disease/ assessed on 18/04/2020
14. Strauss KA, Puffenberger EG, Morton DH. Maple Syrup Urine Disease. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.