Synonyms:
a.k.a. Glucosylcerebrosidase deficiency
Diagnosis:
A type of lysosomal storage disease. A type of sphingolipidosis.
Also a type of Progressive myoclonic epilepsy
Genetics:
Autosomal recessive
Subtypes:
Type 1
Type 2, absent enzyme activity
Type 3, “neurological”:
- Supranuclera gaze palsy, myoclonus, no dementia
- Splenomegaly, pancytopenia
Pathology:
Ectopic dendritogenesis, meganeurites
Treatment:
Options as below
Enzyme replacement therapy:
- Glucocerebrosidase (recombinant) I.V.
Substrate reduction therapy:
- Miglustat, inhibits glucosylceramide synthase