Subtopic- Glycogen and Lysosomal Storage Disorders II Flashcards Preview

Biochemistry > Subtopic- Glycogen and Lysosomal Storage Disorders II > Flashcards

Flashcards in Subtopic- Glycogen and Lysosomal Storage Disorders II Deck (27):
1

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

A mucopolysaccharidosis (p.112)

2

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

A mucopolysaccharidosis (p.112)

3

Which enzyme is deficient in Fabry's disease?

a-galactosidase-A (p.112)

4

Which enzyme is deficient in Gaucher's disease?

Glucocerebrosidase (p.112)

5

Which enzyme is deficient in Niemann Pick disease?

Sphingomyelinase (p.112)

6

Which enzyme is deficient in Tay-Sachs disease?

Hexoaminidase A (p.112)

7

Which enzyme is deficient in Krabbe's disease?

Galactocerebrocidase (p.112)

8

Which enzyme is deficient in Metachromatic leukodystrophy?

Arylsulfatase A (p.112)

9

Which enzyme is deficient in Hurler's syndrome?

a-L-iduronidase (p.112)

10

Which enzyme is deficient in Hunter's syndrome?

Iduronate sulfatase (p.112)

11

What is the accumulated substrate in Fabry's disease?

Ceramide trihexoside (p.112)

12

What is the accumulated substrate in Gaucher's disease?

Glucocerebroside (p.112)

13

What is the accumulated substrate in Niemann Pick disease?

Sphingomyelin (p.112)

14

What is the accumulated substrate in Tay-Sachs disease?

GM2 ganglioside (p.112)

15

What is the accumulated substrate in Krabbe's disease?

Galactocerebroside (p.112)

16

What is the accumulated substrate in Metachromatic leukodystrophy?

Cerebroside sulfate (p.112)

17

What is the accumulated substrate in Hurler's syndrome?

Heparan sulfate, dermatan sulfate (p.112)

18

What is the accumulated substrate in Hunter's syndrome?

Heparan sulfate, dermatan sulfate (p.112)

19

How is Fabry's disease inherited?

X-linked recessive (p.112)

20

How is Gaucher's disease inherited?

Autosomal Recessive (p.112)

21

How is Niemann Pick disease inherited?

Autosomal Recessive (p.112)

22

How is Tay-Sachs disease inherited?

Autosomal Recessive (p.112)

23

How is Krabbe's disease inherited?

Autosomal Recessive (p.112)

24

How is Metachromatic leukodystrophy inherited?

Autosomal Recessive (p.112)

25

How is Hurler's syndrome inherited?

Autosomal Recessive (p.112)

26

How is Hunter's syndrome inherited?

X-linked recessive (p.112)

27

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

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