Treatable lysosomal storage diseases in the advent of disease-specific therapy.

Internal Medicine Journal
Heidi PetersJeff Szer

Abstract

Lysosomal storage diseases (LSD) comprise a rare and heterogeneous group of nearly 50 heritable metabolic disorders caused by mutations in proteins critical for cellular lysosomal function. Defects in the activity of these proteins in multiple organs leads to progressive intra-lysosomal accumulation of specific substrates, resulting in disruption of cellular functions, extracellular inflammatory responses, tissue damage and organ dysfunction. The classification and clinical presentation of different LSD are dependent on the type of accumulated substrate. Some clinical signs and symptoms are common across multiple LSD, while others are more specific to a particular syndrome. Due to the rarity and wide clinical diversity of LSD, identification and diagnosis can be challenging, and in many cases diagnosis is delayed for months or years. Treatments, such as enzyme replacement therapy, haemopoietic stem cell transplantation and substrate reduction therapy, are now available for some of the LSD. For maximum effect, therapy must be initiated prior to the occurrence of irreversible tissue damage, highlighting the importance of prompt diagnosis. Herein, we discuss the clinical presentation, diagnosis and treatment of four of the treatab...Continue Reading

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Citations

Feb 12, 2021·Internal Medicine Journal·Jeff Szer
May 1, 2021·European Respiratory Review : an Official Journal of the European Respiratory Society·Raphaël BorieOlivier Lidove
Jun 3, 2021·International Journal of Molecular Sciences·Paweł Zapolnik, Antoni Pyrkosz
Jul 2, 2021·Nihon yakurigaku zasshi. Folia pharmacologica Japonica·Yasuhiro OgawaKazuhiko Oishi

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