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Clinical case of tyrosinemia type I in the newborn
https://doi.org/10.25557/2073-7998.2022.05.46-48
Abstract
A case of type 1 tyrosinemia in a newborn is presented with a description of clinical signs illustrating the complexity of diagnosing the disease in a newborn. Particular attention is paid to the description of neurological manifestations and the results of instrumental examination. The inclusion of type 1 tyrosinemia in expanded neonatal screening will reduce the time for diagnosing the disease in newborns and start pathogenetic treatment as early as possible.
About the Author
S. V. Cherkasova
Pirogov Russian National Research Medical University; N.F. Filatov Chldren’s City Hospital of the Department of Healthcare of the City of Moscow
Russian Federation
Russian Federation
References
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2. Baydakova GV, Ivanova TA, Mikhaylova SV, et al. The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation. JIMD Reports. 2019;45:89-93. DOI: 10.1007/8904_2018_144.
3. Ассоциация медицинских генетиков, Союз педиатров России, Национальная ассоциация детских реабилитологов. Клинические рекомендации. Тирозинемия, тип 1. Доступно по: https://cr.minzdrav.gov.ru/recomend/409_2
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For citations:
Cherkasova S.V. Clinical case of tyrosinemia type I in the newborn. Medical Genetics. 2022;21(5):46-48. (In Russ.) https://doi.org/10.25557/2073-7998.2022.05.46-48
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