Sphingolipidoses
Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, also relating to sphingolipid metabolism. The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations such as Ashkenazi Jews. Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.

Accumulated products
Gangliosides: Gangliosidosis
GM1 gangliosidoses
GM2 gangliosidoses
Tay–Sachs disease
Sandhoff disease
GM2-gangliosidosis, AB variant
Glycolipids
Fabrys disease
Krabbe disease
Metachromatic leukodystrophy
Glucocerebrosides
Gauchers disease

Comparison
Metabolic pathways
See also
Lipid storage disorder

References
External links

Sphingolipidoses at the US National Library of Medicine Medical Subject Headings (MeSH)