Lysosomal storage diseases. Sphingolipidoses — Fabry, Gaucher and Farber diseases
- Authors: Gorbunova V.N.1, Buchinskaia N.V.2, Janus G.A.1, Kostik M.M.1
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Affiliations:
- St. Petersburg State Pediatric Medical University
- St. Petersburg State Medical Diagnostic Center (Genetic medical center)
- Issue: Vol 13, No 2 (2022)
- Pages: 61-88
- Section: Наследственные болезни обмена
- URL: https://journals.rcsi.science/pediatr/article/view/109260
- DOI: https://doi.org/10.17816/PED13261-88
- ID: 109260
Cite item
Abstract
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 α-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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##article.viewOnOriginalSite##About the authors
Victoria N. Gorbunova
St. Petersburg State Pediatric Medical University
Email: vngor@mail.ru
PhD, Dr. Biol. Sci., Professor, Department of Medical Genetics
Russian Federation, Saint PetersburgNatalia V. Buchinskaia
St. Petersburg State Medical Diagnostic Center (Genetic medical center)
Email: nbuchinskaia@gmail.com
MD, PhD, Pediatrician, Geneticist of Consulting Department
Russian Federation, Saint PetersburgGrigorii A. Janus
St. Petersburg State Pediatric Medical University
Email: janus365dd@gmail.com
PhD, Junior Researcher of the Department of General and Molecular Medical Genetics
Russian Federation, Санкт-ПетербургMikhail M. Kostik
St. Petersburg State Pediatric Medical University
Author for correspondence.
Email: kost-mikhail@yandex.ru
MD, PhD, Dr. Med. Sci., Professor, Department of Hospital Pediatrics
Russian Federation, Санкт-ПетербургReferences
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