Lysosomal diseases: Overview on current diagnosis and treatment

• Autor(a) principal: Poswar,Fabiano de Oliveira
• Data de Publicação: 2019
• Outros Autores: Vairo,Filippo, Burin,Maira, Michelin-Tirelli,Kristiane, Brusius-Facchin,Ana Carolina, Kubaski,Francyne, Souza,Carolina Fischinger Moura de, Baldo,Guilherme, Giugliani,Roberto
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Genetics and Molecular Biology
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200165
• topic: Lysosomal storage diseases; neonatal screening; hematopoietic stem cell transplantation; enzyme replacement therapy; gene therapy

Abstract 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.