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.
- alpha-mannosidosis
- aspartylglucosaminuria
- cholesteryl ester storage disease
- chronic hexosaminidase A deficiency
- cystinosis
- Danon disease
- Fabry disease
- Farber disease
- fucosidosis
- galactosialidosis
- Gaucher disease
- GM1 gangliosidosis
- GM2 gangliosidosis
- I-cell disease/mucolipidosis II
- infantile free sialic acid storage disease
- juvenile hexosaminidase A deficiency
- Krabbe disease
- lysosomal acid lipase deficiency
- metachromatic leukodystrophy
- mucopolysaccharidoses
- multiple sulfatase deficiency
- Niemann-Pick disease
- neuronal ceroid lipofuscinoses
- Pompe disease
- pycnodysostosis
- Schindler disease
- Salla disease
- Wolman disease
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