Subtopic- Glycogen and Lysosomal Storage Disorders II

Question 1

What type of lysosomal storage disease is Hurler’s syndrome?

Answer 1

A mucopolysaccharidosis (p.112)

Question 2

What type of lysosomal storage disease is Hunter’s syndrome?

Answer 2

A mucopolysaccharidosis (p.112)

Question 3

Which enzyme is deficient in Fabry’s disease?

Answer 3

a-galactosidase-A (p.112)

Question 4

Which enzyme is deficient in Gaucher’s disease?

Answer 4

Glucocerebrosidase (p.112)

Question 5

Which enzyme is deficient in Niemann Pick disease?

Answer 5

Sphingomyelinase (p.112)

Question 6

Which enzyme is deficient in Tay-Sachs disease?

Answer 6

Hexoaminidase A (p.112)

Question 7

Which enzyme is deficient in Krabbe’s disease?

Answer 7

Galactocerebrocidase (p.112)

Question 8

Which enzyme is deficient in Metachromatic leukodystrophy?

Answer 8

Arylsulfatase A (p.112)

Question 9

Which enzyme is deficient in Hurler’s syndrome?

Answer 9

a-L-iduronidase (p.112)

Question 10

Which enzyme is deficient in Hunter’s syndrome?

Answer 10

Iduronate sulfatase (p.112)

Question 11

What is the accumulated substrate in Fabry’s disease?

Answer 11

Ceramide trihexoside (p.112)

Question 12

What is the accumulated substrate in Gaucher’s disease?

Answer 12

Glucocerebroside (p.112)

Question 13

What is the accumulated substrate in Niemann Pick disease?

Answer 13

Sphingomyelin (p.112)

Question 14

What is the accumulated substrate in Tay-Sachs disease?

Answer 14

GM2 ganglioside (p.112)

Question 15

What is the accumulated substrate in Krabbe’s disease?

Answer 15

Galactocerebroside (p.112)

Question 16

What is the accumulated substrate in Metachromatic leukodystrophy?

Answer 16

Cerebroside sulfate (p.112)

Question 17

What is the accumulated substrate in Hurler’s syndrome?

Answer 17

Heparan sulfate, dermatan sulfate (p.112)

Question 18

What is the accumulated substrate in Hunter’s syndrome?

Answer 18

Heparan sulfate, dermatan sulfate (p.112)

Question 19

How is Fabry’s disease inherited?

Answer 19

X-linked recessive (p.112)

Question 20

How is Gaucher’s disease inherited?

Answer 20

Autosomal Recessive (p.112)

Question 21

How is Niemann Pick disease inherited?

Answer 21

Autosomal Recessive (p.112)

Question 22

How is Tay-Sachs disease inherited?

Answer 22

Autosomal Recessive (p.112)

Question 23

How is Krabbe’s disease inherited?

Answer 23

Autosomal Recessive (p.112)

Question 24

How is Metachromatic leukodystrophy inherited?

Answer 24

Autosomal Recessive (p.112)

Question 25

How is Hurler’s syndrome inherited?

Answer 25

Autosomal Recessive (p.112)

Question 26

How is Hunter’s syndrome inherited?

Answer 26

X-linked recessive (p.112)

Question 27

What is the most prominent clinical difference between Tay Sach’s disease and Niemann Pick disease?

Answer 27

Niemann Pick –> hepatosplenomeagly; no hepatosplenomeagly in Tay Sachs (p.112)