Lysosomal Storage Diseases pg 114

Question 1

Alpha-Galactosidase A deficiency

Answer 1

Fabry dz

Question 2

Glucocerebrosidase

Answer 2

Gaucher

Question 3

Sphingomyelinase

Answer 3

Niemann Pick dz

Question 4

Hexosaminidase A

Answer 4

Tay-Sachs

Question 5

Galactocerebrosidase

Answer 5

Krabbe

Question 6

Arylsulfatase

Answer 6

Metachromatic Leukodystrophy

Question 7

Alpha-L-Iduronidase

Answer 7

Hurler’s

Question 8

Iduronate Sulfatase

Answer 8

Hunter’s

Question 9

Accumulation in Fabry?

Answer 9

Ceramide trihexoside

Question 10

Acc in Gauchers?

Answer 10

Glucocerebroside

Question 11

Acc in Niemann-Pick?

Answer 11

Sphingomyelin

Question 12

Acc in Tay-Sachs?

Answer 12

GM2 Ganglioside

Question 13

Acc in Krabbe?

Answer 13

Galactocerebroside and Psychosine

Question 14

Acc in Metachromatic Leukodystrophy?

Answer 14

Cerebroside Sulfate

Question 15

Acc in both Hurler and Hunter?

Answer 15

Heparan Sulfate and Dermatan Sulfate

Question 16

All diseases (with exception of 2) are what mode of inheritance?

Answer 16

Autosomal Recessive

Question 17

What are the 2 exceptions to inheritance? What is their mode of inheritance?

Answer 17

Fabry and Hunter: X-linked Recessive

Question 18

Which 3 are assoc with an early death before the age of 3?

Answer 18

Niemann-Pick
Tay-Sachs
Krabbe

Question 19

Which 2 have macular “cherry-red” spots?

Answer 19

Niemann-Pick
Tay-Sachs
Note: don’t forget Central Retinal Artery Occlusion also has “cherry-red” spots on the macula.

Question 20

“Crumpled tissue paper” macrophages.

Answer 20

Gaucher

Question 21

Which one is a/w renal failure?

Answer 21

Fabry

Question 22

Which one is the most common?

Answer 22

Gaucher

Question 23

Which one is a demyelinating dz?

Answer 23

Metachromatic Leukodystrophy

Question 24

Which one is a/w Corneal Clouding?

Answer 24

Hurlers

Note: Hunters does not.