Metabolism XI

Question 1

What enzyme is deficient in Pompe’s disease?

Answer 1

Lysosomal a-1,4-glucosidase (acid maltase) (p.111)

Question 2

What enzyme is deficient in Cori’s disease?

Answer 2

Debranching enzyme (a-1,6-glucosidase) (p.111)

Question 3

What enzyme is deficient in McArdle’s disease?

Answer 3

Skeletal muscle glycogen phosphorylase (p.111)

Question 4

How is von Gierke’s disease inherited?

Answer 4

Autosomal recessive (p.111)

Question 5

How is Pompe’s disease inherited?

Answer 5

Autosomal recessive (p.111)

Question 6

How is Cori’s disease inherited?

Answer 6

Autosomal recessive (p.111)

Question 7

How is McArdle’s disease inherited?

Answer 7

Autosomal recessive (p.111)

Question 8

What is the general pathology associated with lysosomal storage diseases?

Answer 8

A deficiency in one of the many lysosomal enzymes that results in an accumulation of abnormal metabolic products (p.112)

Question 9

Describe the findings associated with Fabry’s disease.

Answer 9

Peripheral neuropathy of the hands and feet, angiokeratomas, cardiovascular/renal disease (p.112)

Question 10

Describe the findings associated with Gaucher’s disease.

Answer 10

Hepatosplenomeagly, aseptic necrosis of femur, bone crises, Gaucher’s cells (macrophages that look like crumpled tissue paper) (p.112)

Question 11

Describe the findings associated with Niemann Pick disease.

Answer 11

Progressive neurodegeneration, hepatosplenomeagly, cherry-red spot on macula, foam cells (p.112)

Question 12

Describe the findings associated with Tay-Sachs disease.

Answer 12

Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, no hepatosplenomeagly (p.112)

Question 13

Describe the findings associated with Krabbe’s disease.

Answer 13

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells (p.112)

Question 14

Describe the findings associated with Metachromatic leukodystrophy.

Answer 14

Central and peripheral demylination with ataxia and dementia (p.112)

Question 15

Describe the findings associated with Hurler’s syndrome.

Answer 15

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomeagly (p.112)

Question 16

Describe the findings associated with Hunter’s syndrome.

Answer 16

Mild Hurler’s syndrome (developmental delay, gargoylism, airway obstruction, hepatosplenomeagly) and aggressive behaviour. NO corneal clouding (p.112)

Question 17

What type of lysosomal storage disease is Fabry’s disease?

Answer 17

A Sphingolipidosis (p.112)

Question 18

What type of lysosomal storage disease is Gaucher’s disease?

Answer 18

The most common sphingolipidosis (p.112)

Question 19

What type of lysosomal storage disease is Niemann Pick disease?

Answer 19

A Sphingolipidosis (p.112)

Question 20

What type of lysosomal storage disease is Tay-Sachs disease?

Answer 20

A Sphingolipidosis (p.112)

Question 21

What type of lysosomal storage disease is Krabbe’s disease?

Answer 21

A Sphingolipidosis (p.112)

Question 22

What type of lysosomal storage disease is Metachromatic leukodystrophy?

Answer 22

A Sphingolipidosis (p.112)

Question 23

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

Answer 23

A mucopolysaccharidosis (p.112)

Question 24

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

Answer 24

A mucopolysaccharidosis (p.112)

Question 25

Which enzyme is deficient in Fabry’s disease?

Answer 25

a-galactosidase-A (p.112)

Question 26

Which enzyme is deficient in Gaucher’s disease?

Answer 26

Glucocerebrosidase (p.112)