Clinical case of the maple syrup urine disease in the neonate
https://doi.org/10.25557/2073-7998.2023.04.38-43
Abstract
Inborn errors of metabolism are an extensive group of congenital diseases, collectively affecting up to 2-3 % of the population. Anumber of hereditary metabolic diseases is characterised by an acute and earlier beginning in the first days or months of a child’s life and anaggressive course with a high probability of mortality. This course of the disease requires a rapid development of a strategy for the examination and treatment of the patient. The article presents a clinical example of a child with maple syrup urine disease. Given the rare frequency, it is very difficult to collect and analyze a large group of patients with leucinosis. Therefore, the description of even a single case is of clinical interest and is useful for highlighting the medical audience.
About the Authors
O. V. Bugun
Scientific Centre for Family Health and Human Reproduction Problems
Russian Federation
Russian Federation
16, Timiryazeva st., Irkutsk, 664003
N. N. Martynovich
Irkutsk State Medical University
Russian Federation
Russian Federation
1, Krasnogo vosstaniya st., Irkutsk, 664003
G. P. Bogonosova
Scientific Centre for Family Health and Human Reproduction Problems
Russian Federation
Russian Federation
16, Timiryazeva st., Irkutsk, 664003
T. A. Astahova
Scientific Centre for Family Health and Human Reproduction Problems
Russian Federation
Russian Federation
16, Timiryazeva st., Irkutsk, 664003
L. V. Rychkova
Scientific Centre for Family Health and Human Reproduction Problems
Russian Federation
Russian Federation
16, Timiryazeva st., Irkutsk, 664003
D. M. Barycova
Children’s Clinical Hospital of Irkutsk
Russian Federation
Russian Federation
57, Sovetskaya st., Irkutsk, 664009
S. N. Kuznetcova
Children’s Clinical Hospital of Irkutsk
Russian Federation
Russian Federation
57, Sovetskaya st., Irkutsk, 664009
E. G. Osipova
Children’s Clinical Hospital of Irkutsk
Russian Federation
Russian Federation
57, Sovetskaya st., Irkutsk, 664009
T. Y. Dorofeeva
Children’s Clinical Hospital of Irkutsk
Russian Federation
Russian Federation
57, Sovetskaya st., Irkutsk, 664009
Y. V. Mihelsone
Children’s Clinical Hospital of Irkutsk
Russian Federation
Russian Federation
57, Sovetskaya st., Irkutsk, 664009
References
1. Ferreira CR, van Karnebeek CD. Inborn errors of metabolism. Handbook of Clinical Neurology. 2019;162:449-481. doi:10.1016/B978-0-444-64029-1.00022-9
2. Wasim M, Awan FR, Khan HN et al. Aminoacidopathies: prevalence, etiology,screening, and treatment options. Biochemical Genetics. 2018;56(1-2):7-21. doi:10.1007/s10528-017-9825-6
3. Zakharova E.Yu., Izhevskaya V.L., Baydakova G.V., Ivanova T.A., Chumakova O.V., Kutsev S.I. Massovyy skrining na nasledstvennyye bolezni: klyuchevyye voprosy. [Newborn screening for inherited metabolic diseases: key issues]. Meditsinskaya genetika [Medical Genetics]. 2017;16(10):3-13. (In Russ.)
4. Blackburn PR, Gass JM, Vairo FP, et al. Maple syrup urine disease: mechanisms and management. The Application of Clinical Genetics. 2017;10:57–66.
5. Harris-Haman P, Brown L, Massey S, et al. Implications of Maple Syrup Urine Disease in Newborns. Nursing for Women’s Health. 2017;21(3):196–206. doi:10.1016/j.nwh.2017.04.009
6. De LonlayP, Posset R, Mütze U, et al. Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational study. JIMD Reports. 2021;59(1):110–119. doi:10.1002/jmd2.12207
7. MedinaMF, Castro G, Falcon F, et al. Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics.2021;187(3):373–380. doi:10.1002/ajmg.c.31933
8. XuJ, Jakher Y, Ahrens-Nicklas RC. Brain branched-chain amino acids in maple syrup urine disease: Implications for neurological disorders. In International Journal of Molecular Sciences. 2020;21:1–18. doi:10.3390/ijms21207490
9. Kathait AS, Puac P, Castillo M. Imaging findings in maple syrup urine disease: a case report. Journal of paediatric neurosciences. 2018;13(1):103-105.
10. Baydakova G.V., Ivanova T.A., Zakharova E.Yu., Kokorina O.S. Rol’ tandemom mass-spektrometrii v diagnostike nasledstvennykh bolezney obmena veshchestv [The role of tandem mass spectrometry in the diagnosis of inherited metabolic diseases]. Rossiyskiy zhurnal detskoy gematologii i onkologii. [Russian Journal of Pediatric Hematology and Oncology]. 2018;5(3):96-105. (In Russ.) https://doi.org/10.17650/2311-1267-2018-5-3-96-105
11. Feng W, Jia J, Guan H,Tian Q. Case report: maple syrup urine disease with a novel DBT gene mutation. BMP Pediatrics.2019;19:494 Doi:10.1186/s12887-019-1880-1
12. Frazier DM, Allgeier C, Homer C, et al. Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach. Molecular Genetic and Metabolism Reports. 2014;112:210-217.
13. Guilder L, Prada CE, Saenz S, et al. Hyperleucinosis during infections in maple syrup urine disease post liver transplantation. Molecular Genetic and Metabolism Reports. 2021; 27:100763
Review
For citations:
Bugun O.V., Martynovich N.N., Bogonosova G.P., Astahova T.A., Rychkova L.V., Barycova D.M., Kuznetcova S.N., Osipova E.G., Dorofeeva T.Y., Mihelsone Y.V. Clinical case of the maple syrup urine disease in the neonate. Medical Genetics. 2023;22(4):38-43. (In Russ.) https://doi.org/10.25557/2073-7998.2023.04.38-43
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