A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia
Autor: | Olga Yaneth Echeverri, María Alejandra Puentes-Tellez, Alfredo Uribe-Ardila, Carlos J. Alméciga-Díaz, Diego Suárez, Angela J. Espejo-Mojica, Daniela Solano-Galarza, Johana Guevara, Rafael Guillermo Garzón-Jaramillo, Paula Andrea Lerma-Barbosa |
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Jazyk: | angličtina |
Rok vydání: | 2020 |
Předmět: |
0301 basic medicine
medicine.medical_specialty Epidemiology medicine.medical_treatment Metabolite Hematopoietic stem cell transplantation Disease Colombia Bioinformatics Biochemistry Article Clinical research 03 medical and health sciences 0302 clinical medicine Lysosomal storage diseases medicine Genetics Substrate reduction therapy Clinical genetics Pharmaceutical sciences lcsh:Social sciences (General) lcsh:Science (General) Multidisciplinary business.industry Enzyme replacement therapy Mucopolysaccharidoses Laboratory medicine medicine.disease Fabry disease Pharmaceutical science Pharmacological chaperone 030104 developmental biology Fabry Gaucher Medical genetics lcsh:H1-99 business 030217 neurology & neurosurgery medicine.drug lcsh:Q1-390 |
Zdroj: | Heliyon, Vol 6, Iss 3, Pp e03635-(2020) Heliyon |
ISSN: | 2405-8440 |
Popis: | Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism characterized by the lysosomal accumulation of partially or non-degraded molecules due to mutations in proteins involved in the degradation of macromolecules, transport, lysosomal biogenesis or modulators of lysosomal environment. Significant advances have been achieved in the diagnosis, management, and treatment of LSDs patients. In terms of approved therapies, these include enzyme replacement therapy (ERT), substrate reduction therapy, hematopoietic stem cell transplantation, and pharmacological chaperone therapy. In this review, we summarize the Colombian experience in LSDs thorough the evidence published. We identified 113 articles published between 1995 and 2019 that included Colombian researchers or physicians, and which were mainly focused in Mucopolysaccharidoses, Pompe disease, Gaucher disease, Fabry disease, and Tay-Sachs and Sandhoff diseases. Most of these articles focused on basic research, clinical cases, and mutation reports. Noteworthy, implementation of the enzyme assay in dried blood samples, led to a 5-fold increase in the identification of LSD patients, suggesting that these disorders still remain undiagnosed in the country. We consider that the information presented in this review will contribute to the knowledge of a broad spectrum of LSDs in Colombia and will also contribute to the development of public policies and the identification of research opportunities. Genetics; Metabolite; Pharmaceutical Science; Biochemistry; Epidemiology; Clinical Genetics; Laboratory Medicine; Clinical Research; Lysosomal storage diseases; Colombia; Fabry; Gaucher; mucopolysaccharidoses |
Databáze: | OpenAIRE |
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