Lysosomal storage disorders

Last revised by Daniel J Bell on 09 Jun 2020

Lysosomal storage disorders (LSDs) form a large group of clinical entities, more than forty now described, with the common etiological theme being the presence of dysfunctional lysosomal proteins, with the secondary accumulation of toxic metabolites inside the cellular lysosomes.

Epidemiology

The prevalence of these individual disorders ranges from 1 in 57 000 for Gaucher disease to 1 in 4.2 million for sialidosis 2. As a group of disorders the prevalence is 1 per 7 700 live births 2.

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