Clinical and economic impact of screening for Fabry disease in children from high risk groups

Sphingolipidoses are genetically heterogeneous group of rare monogenic metabolic diseasesб caused by inherreted deficiency of enzymes involved in the degradation of sphingolipids. Sphingolipids are catabolized in lysosomes, where glycohydrolases degrade them by separation of terminal sugars to core ceramide. All sphingolipidoses are characterized by abnormal deposition of a large amount of sphingolipids and other unsplit products of lipid metabolism, mainly in parenchymal organs, bone marrow and brain. Among sphingolipidoses, such groups of diseases as glycosphingolipidoses, gangliosidoses and leukodystrophies are distinguished. This review presents the epidemiology, clinical, biochemical and molecular characteristics of the three main types of glycosphingolipidoses Fabry disease, Gaucher disease and Farber disease, caused by the mutations in the genes of -galactosidase A (GLA), glucocerebrosidase (GBA) and acid ceramidase (ASAH1), respectively. Currently, there is an increased interest in glycosphingolipidoses due to the identification of the spectrum and frequencies of mutations in the GLA, GBA and ASAH1 genes in various populations, including Russia, and the practical availability of individual molecular diagnostic methods. A description of the existing experimental models, their role in the study of the biochemical basis of the pathogenesis of these severe hereditary diseases and the development of various therapeutic approaches are given. We discuss, firstly, the possibility of early diagnosis of Fabry disease, Gaucher and Farber based on neonatal screening and examination of high risk groups of patients in order to improve the effectiveness of their prevention and treatment, as well as (secondly) the advantages and disadvantages of the main approaches to the treatment of these serious diseases, such as bone marrow and hematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction therapy, gene therapy and genome editing.

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Lysosomal storage diseases. Sphingolipidoses — Fabry, Gaucher and Farber diseases

Gorbunova

Бучинская²,

Yanus

et al. 2022

Pediatr (SPb)

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Clinical and economic impact of screening for Fabry disease in children from high risk groups

Abstract: To evaluate a potential impact of screening for Fabry disease (FD) and subsequent enzyme replacement therapy (ERT) among children and adolescents with diseases masking FD on the burden of FD in Russia.

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Lysosomal storage diseases. Sphingolipidoses — Fabry, Gaucher and Farber diseases

Lysosomal storage diseases. Sphingolipidoses — Fabry, Gaucher and Farber diseases

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