Lysosomal diseases: Overview on current diagnosis and treatment

• Published in: Genetics and molecular biology Vol. 42; no. 1 suppl 1; pp. 165 - 177
• Main Authors: Poswar, Fabiano de Oliveira, Vairo, Filippo, Burin, Maira, Michelin-Tirelli, Kristiane, Brusius-Facchin, Ana Carolina, Kubaski, Francyne, Souza, Carolina Fischinger Moura de, Baldo, Guilherme, Giugliani, Roberto
• Format: Journal Article
• Language: English
• Published: Brazil Sociedade Brasileira de Genetica 01.01.2019; Sociedade Brasileira de Genética
• Subjects: Diagnosis; enzyme replacement therapy; Enzymes; Gene therapy; Genetic screening; hematopoietic stem cell transplantation; Hematopoietic stem cells; Lysosomal storage diseases; Medical treatment; neonatal screening; Proteins; Stem cell transplantation; Stem cells; Transplantation
• ISSN: 1415-4757; 1678-4685; 1678-4685
• DOI: 10.1590/1678-4685-gmb-2018-0159

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.