GAUCHER'S DISEASE AND HOW IT AFFECTS METABOLISM

TYPES

Type I

Does not affect the nervous system

- Splenomegaly, hepatomegaly and bone lesions. -Jewish population

Life expectancy unaffected

Type II

Most devastating way

- Neurological involvement (since childhood). - The entire population.

Early death

Type III

Intermediate severity

- Neurological symptoms (dementia and spasticity included) - The entire population

It is detected around the age of ten

WHAT IS IT?

Lysosomal storage disease, accumulation of undegraded compounds

Increase in cell size and the number of lysosomes causing cellular dysfunction and pathological consequences

CAUSES

30 different mutations identified

Predict severity

Macrophages

METABOLISM

Glucocerebrosidase Deficiency

catalyzes the breakdown of glucosylceramide into glucose and ceramide