Case report and literature review: Maple syrup urine disease
Article Sidebar
Main Article Content
Abstract
Background: The maple syrup urine disease is known for its smell, which is like honey from the maple tree or like "burned sugar". It is a hereditary disorder of branched–chain amino acidswith different phenotypic expressions. The acute period generates an accumulation of neurotoxins requiring early diagnosis and treatment due to neurological sequelae and fatal outcome.
Clinical case: We present the case of a newborn at term pregnancy with an unremarkable story. She was admitted after six days of irritability, poor suction, subjective fever, and emesis. The patient had unfavorable evolution with ventilatory failure, neurological signs, and acidosis. Inborn error of metabolism was suspected, and initial treatment was established in consonance with the clinical suspicion. A report of an increase of branched–chain amino acids confirmed maple syrup urine disease.
Conclusions: Presenting this case, we make a non–systematic review of the literature, including pathophysiology, diagnosis, and treatment guidelines, showing current evidence, for metabolic control, avoiding mortality, and significant neurological outcome.
Downloads
Article Details
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Creative Commons
License Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
You are free to:
Share - copy and redistribute the material in any medium or format.
Adapt - remix, transform, and build upon the material The licensor cannot revoke these freedoms as long as you follow the license terms.
• Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
• NonCommercial — You may not use the material for commercial purposes.
• ShareAlike — If you remix, transform, or build upon the material, you must distribute your contributions under the same license as the original.
• No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
References
Chuang D, Shih V WR. Maple syrup urine disease (branched chain ketoaciduria). Metab Mol Basis Inherit Dis. 2001;(87):1250–1264.
Puffenberger EG. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet. 2003;121C(1):18– 31.
Couce ML, Castiñeiras DE, Bóveda MD, Baña A, Cocho JA, Iglesias AJ, et al. Evaluation and long–term follow–up of infants with inborn errors of metabolism identified in an expanded screening programme. Mol Genet Metab. 2011;104(4):470–5.
Gomez J., Espinosa E., Barrera L. EO. Enfermedad De Orina En Jarabe De Arce : Mejoria Clínica Asociada a Detección Precoz Y Manejo Oportuno. Reporte De Caso y Revisión de Literatura. Revista. 2008;16(49):99–105.
Páez P, Suárez F. Urgencias metabólicas y genéticas en la Unidad de Recién Nacidos: Enfermedad de la orina con olor a jarabe de arce. Nutr Hosp. 2015;32(1):420–5.
Pettit F, Yeaman S. RL. Purification and characterization of branched chain a–keto acid dehydrogenase complex of bovine kidney. Proc Nati Acad Sci. 1978;75(10):4881–5.
Zárate P, Belmont L, Lizárraga S, Muñoz M, Stark A. Metabolopatias en la unidad de cuidados intensivos. Man LA Soc Latinoam Cuid intensivos Pediatr. 2018;(13.3):1–13.
Rodan L, Aldubayan S, Berry G, Levy H. Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emer Care. 2017;00(00):1–4.
Nellis M, 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.
Gupta D, Bijarnia–Mahay S, Saxena R, Kohli S, Dua–Puri R, Verma J, et al. Identification of mutations, genotype–phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients. Eur J Med Genet. 2015;58(9):471–8.
Strauss KA, Puffenberger EG MD. Maple Syrup Urine Disease. GeneReviews® [Internet]. 2013;1–38.
Amartino H, Austral HU, Meritano J. Enfermedad de Orina a Jarabe de Arce. Rev del Hosp Matern Infant Ramón Sardá. 2008;27(002):89–94.
Schadewaldt P, Bodner–leidecker A, Hammen H, Wendel U. Significance of L –Alloisoleucine in Plasma for Diagnosis of Maple Syrup Urine Disease. Clin Chem. 1999;45(10):1734–40.
Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, et al. Nutrition management guideline for maple syrup urine disease: An evidence– and consensus–based approach. Mol Genet Metab. 2014;112(3):210–7.
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. 2013;99(4):333–45.