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Treatment of tyrosinemia type 1: practical aspects
https://doi.org/10.25557/2073-7998.2022.05.18-29
Abstract
Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Hereditary tyrosinemia type I (HT-I) is inherited metabolic disease caused by defects in tyrosine metabolism and by a mutation in the gene coding for fumarylacetoacetate hydrolase (FAH). The main clinical features of HT-I are caused by hepatic involvement and renal tubular dysfunction. The recommended treatment approaches for HT-1 are the prescription of specialized nutrition products, pharmacologic treatment with nitisinone, a peroral inhibitor of FAH in the tyrosine catabolic pathway, and symptomatic management. Dietary intervention with restriction of phenylalanine and tyrosine together with supportive measures can ameliorate the symptoms, but given the high risk for hepatocellular carcinoma, a cure for these patients so far is possible only with liver transplantation. In 2021, clinical guidelines for the treatment of this rаre disease were published in Russian Federation. To provide for the timely treatment, it is essential for a practitioner involved in the care patients with such a rare disorder as НТ-1 to have the knowledge of the principles of management, as well as practical algorithms for diet calculation. The article gives a detailed case-based description of management during metabolic decompensation and the choice of dietary therapy for HT-1 patients of different age groups.
About the Authors
E. Yu. Zakharova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
V. V. Zarubina
Morozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of Moscow
Russian Federation
Russian Federation
N. A. Krasnoshchekova
Morozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of Moscow
Russian Federation
Russian Federation
N. L. Pechatnikova
Morozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of Moscow
Russian Federation
Russian Federation
V. S. Kakaulina
Morozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of Moscow
Russian Federation
Russian Federation
T. N. Kekeeva
Morozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of Moscow
Russian Federation
Russian Federation
T. V. Bushueva
Research Centre for Medical Genetics; National Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
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For citations:
Zakharova E.Yu., Zarubina V.V., Krasnoshchekova N.A., Pechatnikova N.L., Kakaulina V.S., Kekeeva T.N., Bushueva T.V. Treatment of tyrosinemia type 1: practical aspects. Medical Genetics. 2022;21(5):18-29. (In Russ.) https://doi.org/10.25557/2073-7998.2022.05.18-29
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