Pathology

Enzyme

Lysosomal storage disease

Disease

Enzyme replacement therapy

Glucocerebrosidase

Biology

Substrate reduction therapy

Fabry disease

Lysosome

Lysosomal storage disorders

Biochemistry

Medicine

Annals of Translational Medicine

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.

Lysosomal storage disease overview