Lysosomal Storage Diseases

Question 1

Niemann-Pick disease

Answer 1

Sphingomyelinase deficiency

-cherry red mascular spot and hepatosplenomegaly

Question 2

Krabbe disease

Answer 2

Galactocerebroside deficiency causing buildup of galactocerebroside and psychosine.

Infants have developmental delay and/or regression, hypotonia, optic atrophy, and seizures

Question 3

Fabry disease

Answer 3

Alpha-galactosidase A deficiency causes globotriaosylceramide accumulation. Neuropathic pain and dermatologic pathology

Question 4

Gaucher disease

Answer 4

Beta-glucocerebrosidase deficiency. Glucocerebroside accumulation. Pts have hepatosplenomegaly and skeletal problems

Question 5

Tay-sachs

Answer 5

Beta-hexosaminidase A deficiency leads to GM2 accumulation in neurons. Neurologic regression and cherry-red macular spots are classic symptoms (similar to Niemann-pick disease, but hepatosplenomegaly is absent