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

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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.

作者简介

Victoria Gorbunova

St. Petersburg State Pediatric Medical University

Email: vngor@mail.ru

PhD, Dr. Biol. Sci., Professor, Department of Medical Genetics

俄罗斯联邦, Saint Petersburg

Natalia Buchinskaia

St. Petersburg State Medical Diagnostic Center (Genetic medical center)

Email: nbuchinskaia@gmail.com

MD, PhD, Pediatrician, Geneticist of Consulting Department

俄罗斯联邦, Saint Petersburg

Grigorii Janus

St. Petersburg State Pediatric Medical University

Email: janus365dd@gmail.com

PhD, Junior Researcher of the Department of General and Molecular Medical Genetics

俄罗斯联邦, Санкт-Петербург

Mikhail Kostik

St. Petersburg State Pediatric Medical University

编辑信件的主要联系方式.
Email: kost-mikhail@yandex.ru

MD, PhD, Dr. Med. Sci., Professor, Department of Hospital Pediatrics

俄罗斯联邦, Санкт-Петербург

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2. Figure. Patient, 10 years old, Farber’s disease: a — general view of the patient (defiguration with massive conglomerates of the elbow, wrist, knee, ankle joints, small joints of the hands and feet); b and c — marked defiguration of the hands, deformity of all small joints of the hands, pronounced flexion contractures in the proximal interphalangeal joints; d — granulomas on the lateral surface of the tongue; e — X-ray of the hands; f — CT scan of the sacral spine, the presence of tumor formation coccygeal spine

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