A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia


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. © 2020 The Author(s).

Authors Puentes-Tellez MA, Lerma-Barbosa PA, Garzón-Jaramillo RG, Suarez DA, Espejo-Mojica AJ, Guevara JM, Echeverri OY, Solano-Galarza D, Uribe-Ardila A, Alméciga-Díaz CJ
Journal Heliyon
Publication Date 2020 Mar;6(3):e03635
PubMed 32258481
PubMed Central PMC7113438
DOI 10.1016/j.heliyon.2020.e03635

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