Lysosomal diseases: Overview on current diagnosis and treatment

oleh: Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani

Format: Article
Diterbitkan: Sociedade Brasileira de Genética 2019-04-01

Deskripsi

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.