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Review
. 2018 Dec;6(24):476.
doi: 10.21037/atm.2018.11.39.

Lysosomal storage disease overview

Angela Sun  1
Affiliations
Review

Lysosomal storage disease overview

Angela Sun. Ann Transl Med. 2018 Dec.

Abstract

The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation. Examples of LSDs include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses. This review summarizes the main clinical features, diagnosis, and management of LSDs with an emphasis on those for which treatment is available.

Keywords: Fabry; Gaucher; Lysosomal storage disease (LSD); Niemann-Pick; mucopolysaccharidosis (MPS).

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Conflict of interest statement

Conflicts of Interest: The author has no conflicts of interest to declare.

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