Lysosomal Storage Diseases

Question 1

genetic mutation leads to deficiency of beta glucosidase; liver and spleen enlarage and glycosphingolipids accumulate.; these cells appear in bone marrow (RES INVOLVEMENT)

Answer 1

Gaucher’s disease

Question 2

genetic mutation leads to deficiency of arylsulfatase A; allowing buildup of glycosphingolipids in white matter of brain and cord (CNS involvement)

Answer 2

metachromatic leukodystrophy

Question 3

Gangliosidosis types (1&2) genetic mutation leads to a deficiency of hexosaminidase resulting in severe mental retardation with hearing and vision loss; accumulation of gangliosides in the brain.

Answer 3

Tay-Sachs Disease

Question 4

group of disorders involving genetic mutations leading to a deficiency of alpha iduronidase; results in lack of collagen formation in several systems; death occurs y age 8

Answer 4

hurler syndrome