Lysosomal storage diseases

Question 1

a-L-iduronidase

Answer 1

Hurler’s

Question 1

Dermatan sulfate

Answer 1

Hurler’s, Hunter’s

Question 1

Peripheral neuropathy, angiokeratoma, cardio/renal disease

Answer 1

Fabry’s

Question 2

Cerebroside sulfate

Answer 2

Metachromatic leukodystrophy

Question 3

Arylsulfatase A

Answer 3

Metachromatic leukodystrophy

Question 3

coarse facial features, corneal clouding, joint symptoms, enzymes in serum, fatal in childhood

Answer 3

I-cell disease

Question 4

hexosaminidase A

Answer 4

Tay Sachs

Question 5

mannose-6-phosphate

Answer 5

I-cell disease

Question 6

ceramide trihexoside

Answer 6

Fabry’s

Question 6

Neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells

Answer 6

Niemann Pick

Question 8

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

Answer 8

Hurler’s

Question 10

Peripheral neuropathy, optic atrophy, globoid cells

Answer 10

Krabbe’s

Question 12

Heparan sulfate

Answer 12

Hurler’s, Hunter’s

Question 13

glucocerebrosidase

Answer 13

Gaucher’s

Question 14

GM2 ganglioside

Answer 14

Tay Sachs

Question 15

Hepatosplenomegaly, bone crises, macrophages look like crumpled tissue paper

Answer 15

Gaucher’s

Question 16

a-galactosidase

Answer 16

Fabry’s

Question 16

Developmental delay, gargoylism, airway obstruction, hepatosplenomegaly, aggression

Answer 16

Hunter’s

Question 17

iduronate sulfatase

Answer 17

Hunter’s

Question 19

Neurodegeneration, cherry-red spot on macula, lysosomes with onion skin

Answer 19

Tay Sachs

Question 20

Galactocerebrosidase

Answer 20

Krabbe’s

Question 22

Central and peripheral demyelination, ataxia, dementia

Answer 22

Metachromatic leukodystrophy

Question 23

sphingomyelinase

Answer 23

Niemann Pick