Metabolism XV

Question 1

Which enzyme is deficient in Niemann Pick disease?

Answer 1

Sphingomyelinase (p.112)

Question 2

Which enzyme is deficient in Tay-Sachs disease?

Answer 2

Hexoaminidase A (p.112)

Question 3

Which enzyme is deficient in Krabbe’s disease?

Answer 3

Galactocerebrocidase (p.112)

Question 4

Which enzyme is deficient in Metachromatic leukodystrophy?

Answer 4

Arylsulfatase A (p.112)

Question 5

Which enzyme is deficient in Hurler’s syndrome?

Answer 5

a-L-iduronidase (p.112)

Question 6

Which enzyme is deficient in Hunter’s syndrome?

Answer 6

Iduronate sulfatase (p.112)

Question 7

What is the accumulated substrate in Fabry’s disease?

Answer 7

Ceramide trihexoside (p.112)

Question 8

What is the accumulated substrate in Gaucher’s disease?

Answer 8

Glucocerebroside (p.112)

Question 9

What is the accumulated substrate in Niemann Pick disease?

Answer 9

Sphingomyelin (p.112)

Question 10

What is the accumulated substrate in Tay-Sachs disease?

Answer 10

GM2 ganglioside (p.112)

Question 11

What is the accumulated substrate in Krabbe’s disease?

Answer 11

Galactocerebroside (p.112)

Question 12

What is the accumulated substrate in Metachromatic leukodystrophy?

Answer 12

Cerebroside sulfate (p.112)

Question 13

What is the accumulated substrate in Hurler’s syndrome?

Answer 13

Heparan sulfate, dermatan sulfate (p.112)

Question 14

What is the accumulated substrate in Hunter’s syndrome?

Answer 14

Heparan sulfate, dermatan sulfate (p.112)

Question 15

How is Fabry’s disease inherited?

Answer 15

X-linked recessive (p.112)

Question 16

How is Gaucher’s disease inherited?

Answer 16

Autosomal Recessive (p.112)

Question 17

How is Niemann Pick disease inherited?

Answer 17

Autosomal Recessive (p.112)

Question 18

How is Tay-Sachs disease inherited?

Answer 18

Autosomal Recessive (p.112)

Question 19

How is Krabbe’s disease inherited?

Answer 19

Autosomal Recessive (p.112)

Question 20

How is Metachromatic leukodystrophy inherited?

Answer 20

Autosomal Recessive (p.112)

Question 21

How is Hurler’s syndrome inherited?

Answer 21

Autosomal Recessive (p.112)

Question 22

How is Hunter’s syndrome inherited?

Answer 22

X-linked recessive (p.112)

Question 23

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

Answer 23

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

Question 24

Where are the products of fatty acid metabolism consumed?

Answer 24

Mitochondrion (p.113)

Question 25

Where does fatty acid degredation occur?

Answer 25

Mitochondrion (p.113)

Question 26

What abnormal laboratory values are associated with an Acetyl CoA dehydrogenase deficiency?

Answer 26

Defect in fatty acid metabolism; Increased dicarboxylic acids, decreased glucose, decreased ketones (p.113)