GAUCHER'S DISEASE AND HOW IT AFFECTS METABOLISM

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Gaucher Disease

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Gaucher Disease

Ved Sofia Tsambourlianos

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GAUCHER'S DISEASE AND HOW IT AFFECTS METABOLISM

METABOLISM

Glucocerebrosidase Deficiency

catalyzes the breakdown of glucosylceramide into glucose and ceramide

CAUSES

Macrophages

Predict severity

30 different mutations identified

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

TYPES

Type III

It is detected around the age of ten

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

Intermediate severity

Type II

Early death

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

Most devastating way

Type I

Life expectancy unaffected

- Splenomegaly, hepatomegaly and bone lesions. -Jewish population

Does not affect the nervous system