Lysosomal Storage Diseases

Question 1

deficiency in alpha-galactosidase A?

Answer 1

Fabry’s

Question 2

All of these are autosomal recessive except which 2?

Answer 2

Fabry’s and Hunter’s (X-linked recessive)

Question 3

deficiency in GLUCOcerebrosidase

Answer 3

Gaucher’s

Question 4

deficiency in Sphingomyelinase

Answer 4

Niemann-Pick’s

Question 5

deficiency in Heximinidase A

Answer 5

Tay-Sach’s

Question 6

deficiency in GALACTOcerebrosidase

Answer 6

Krabbe’s

Question 7

deficiency in Arylsulfatase A

Answer 7

Metachromatic Leukodystrophy

Question 8

deficiency in alpha-L-iduronidase

Answer 8

Hurler’s

Question 9

deficiency in Iduronate sulfatase

Answer 9

Hunter’s

Question 10

accumulation of ceramide trihexoside

Answer 10

Fabry’s

Question 11

accumulation of glucocerebroside

Answer 11

Gaucher’s

Question 12

accumulation of sphyingomyelin

Answer 12

Niemann-Pick

Question 13

accumulation of ganglioside GM2

Answer 13

Tay-Sach’s

Question 14

accumulation of galactocerebroside

Answer 14

Krabbe’s

Question 15

accumulation of Cerebroside Sulfate

Answer 15

Metachromatic leukodystrophy

Question 16

accumulation of heparan sulfate and dermatan sulfate (glycosaminoglycans)

Answer 16

Hunters and Hurlers

Question 17

crumpled tissue paper macrophages

Answer 17

Gaucher’s

Question 18

aseptic femur necrosis

Answer 18

Gaucher’s

Question 19

peripheral neuropathy, angiokeratomas, cardiovascular and renal disease

Answer 19

Fabry’s

angiokeratoma= blue/black/red capillary lesions

Question 20

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Answer 20

Krabbe’s disease

Question 21

central and peripheral demyelination, ataxia, dementia

Answer 21

Metachromatic Leukodystrophy

Question 22

failure adding mannose-6-phosphate to lysosome proteins

Answer 22

I cell disease

this results in enzymes being secreted outside of the cell instead of being shipped to the lysosome

Question 23

course facial features, clouded cornea, restricted joint movement

Answer 23

I cell disease