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  • Title: Lysosomal storage disease overview.
    Author: Sun A.
    Journal: Ann Transl Med; 2018 Dec; 6(24):476. PubMed ID: 30740407.
    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.
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