Lysosomal Storage diseases

Question 1

Fabry Disease

Answer 1

alpha-galactosidase A -> accumulate ceramide trihexoside
XR
neuropathy hands/feet, CV/renal disease, angiokeratoma

Question 2

Gaucher disease

Answer 2

glucocerebrosidase -> glucocerebroside
AR
hepatosplenomegaly, Gaucher cells- lipid laden MØ

Question 3

Niemann-Pick disease

Answer 3

sphingomyelinase->sphingomyelin
AR
neurodegeneration, accumulates in CNS/cerebellum, cherry red spot on macula, foam cells, hepatosplenomegaly

Question 4

Tay-Sachs

Answer 4

hexosaminidase A -> GM2 ganglioside
AR
neurodegeneration, cherry red macula, no hepatosplenomegaly, death by age 4

Question 5

Krabbe

Answer 5

galactocerebrosidase -> galactocerebroside
AR
peripheral neuropathy, dvpt delay, optic atrophy, globoid cells

Question 6

Metachromatic leukodystrophy

Answer 6

arylsulfatase A -> cerebroside sulfate
AR
central and peripheral demyelination, ataxia, dementia

Question 7

Hurler syndrome

Answer 7

alpha-L-iduronidase -> heparan sulfate, dematan sulfate
AR
dvpt delay, gargoylism, corneal clouding, hepatosplenomegaly

Question 8

Hunter syndrome

Answer 8

iduronate sulfatase ->heparan sulfate, dematan sulfate
XR
mild hurler + aggressive behavior, no corneal clouding