Lysosomal diseases : overview on current diagnosis and treatment

• Autor(a) principal: Poswar, Fabiano de Oliveira
• Data de Publicação: 2019
• Outros Autores: Vairo, Filippo Pinto e, Burin, Maira Graeff, Tirelli, Kristiane Michelin, Facchin, Ana Carolina Brusius, Kubaski, Francyne, Souza, Carolina Fischinger Moura de, Baldo, Guilherme, Giugliani, Roberto
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/201063
• topic: Terapia de reposição de enzimas; Diagnóstico; Doenças por armazenamento dos lisossomos; Terapêutica; Triagem neonatal; Transplante de células-tronco hematopoéticas; Neonatal screening; Hematopoietic stem cell transplantation; Gene therapy; Lysosomal storage diseases; Enzyme replacement therapy

Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy.