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R. Ivanova (1), A. Sukhomyasova (1, 2), E. Gurinova (1), F. Vasilyev (2), P. Guryeva (2); A. Gorokhova (1), N. Maksimova (2) 1-Center of Medical Genetics, Republican Hospital One – National Center of Medicine, Yakutsk 2-M.K. Ammosov North-Eastern Federal University, Yakutsk

The paper describes a family case of rare lysosomal storage disease. The diagnosis of Fabry disease (FD) is based on its clinical symptoms, enzyme diagnosis, and molecular genetic diagnosis. The paper also analyzes the phenotypic spectrum and discusses early diagnosis and enzyme replacement therapy in children with FD in the Republic of Sakha (Yakutia). The diagnosis of the orphan disease represents a challenge due to its nonspecific symptoms. Screening high-risk individuals is recommended for the early detection of FD.

Fabry disease
α-galactosidase A
hemizygous carriage
pain crises
enzyme replacement therapy

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