Lysosomal Storage Diseases

Question 1

Fabry Disease what enzyme defect?

Answer 1

α-galactosidase A

Question 2

Fabry Disease what accumulates?

Answer 2

Ceramide trihexoside

Question 3

Inheritance of Fabry Disease?

Answer 3

XR

Question 4

Triad of episodic peripheral neuropathy, angiokeratomas, hypohidrosis. Late: progressive renal failure, cardiovascular disease.

Answer 4

Fabry Disease

Question 5

Gaucher Disease what enzyme defect?

Answer 5

Glucocerebrosidase (β-glucosidase)

Question 6

What accumulates in Gaucher Disease?

Answer 6

Glucocerebroside

Question 7

Hepatosplenomegaly, pancytopenia,

osteoporosis, aseptic necrosis of femur, bone crises

Answer 7

Gaucher Disease

Question 8

What are Gaucher cells?

Answer 8

lipid-laden macrophages resembling crumpled tissue paper

Question 9

Niemann Pick Disease what enzyme defect?

Answer 9

Sphingomyelinase

“no man picks his sphinger”

Question 10

What accumulates in Niemann Pick Disease?

Answer 10

Sphingomyelin

Question 11

Progressive neurodegeneration, hepatosplenomegaly, foam cells, “cherry-red” spot on macula

Answer 11

Riemann Pick Disease

Question 12

Enzyme Defect in Tay Sachs

Answer 12

Hexosaminidase A

Question 13

What accumulates in Tay Sachs

Answer 13

GM2 ganglioside

Question 14

Progressive neurodegeneration, developmental delay, “cherry-red” spot on macula, lysosomes with onion skin, NO hepatosplenomegaly (vs Niemann-Pick).

Answer 14

Tay Sachs Disease

Question 15

Enzyme Defect in Krabbe

Answer 15

Galactocerebrosidase

Question 16

What accumulates in Krabbe

Answer 16

Galactocerebroside, psychosine

Question 17

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells.

Answer 17

Krabbe Disease

Question 18

enzyme defect in Metachromatic Leukodystrophy?

Answer 18

Arylsulfatase A

Question 19

What accumulates in metachromatic leukodystrophy?

Answer 19

Cerebroside sulfate

Question 20

enzyme defect in Hurler Syndrome?

Answer 20

α-l-iduronidase

Question 21

what accumulates in Hurler Syndrome?

Answer 21

Heparan sulfate, dermatan sulfate

Question 22

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

Answer 22

Hurler Syndrome

Question 23

Enzyme Defect in Hunter Syndrome

Answer 23

Iduronate sulfatase

Question 24

What accumulates in Hunter Syndrome?

Answer 24

Heparan sulfate, dermatan sulfate

Question 25

Mild Hurler + aggressive behavior, no corneal clouding.

Answer 25

Hunter Syndrome

Question 26

Inheritance of Hunter Syndrome?

Answer 26

XR