Sphingolipidoses (singular "sphingolipidosis") are a class of
lipid storage disorders 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.