Subtopic- Glycogen and Lysosomal Storage Disorders I

Question 1

How many glycogen storage diseases are there and what conditions are characteristic of all glycogen storage diseases?

Answer 1

12 types, all which result in abnormal glycogen metabolism and an accumulation of glycogen within cells (p.111)

Question 2

Describe the findings associated with Von Gierke’s disease (type I).

Answer 2

Glycogen storage disease; severe fasting hypoglycemia, increased glycogen in the liver, increased blood lactate, hepatomeagly (p.111)

Question 3

Describe the findings associated with Pompe’s disease (type II).

Answer 3

Glycogen storage disease; Cardiomeagly and systemic findings (heart, liver, muscle) leading to early death (p.111)

Question 4

Describe the findings associated with Cori’s disease (type III)

Answer 4

Glycogen storage disease that is a milder form of von Gierke’s disease with normal blood lactate levels. Gluconeogenesis is intact (p.111)

Question 5

Describe the findings associated with McArdle’s disease (type V).

Answer 5

Glycogen storage disease; increased glycogen in muscle that can not be broken down which leads to painful cramps and myoglobinuria with strenuous exercise (p.111)

Question 6

What enzyme is deficient in von Gierke’s disease?

Answer 6

Glucose-6-phosphatase (p.111)

Question 7

What enzyme is deficient in Pompe’s disease?

Answer 7

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

Question 8

What enzyme is deficient in Cori’s disease?

Answer 8

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

Question 9

What enzyme is deficient in McArdle’s disease?

Answer 9

Skeletal muscle glycogen phosphorylase (p.111)

Question 10

How is von Gierke’s disease inherited?

Answer 10

Autosomal recessive (p.111)

Question 11

How is Pompe’s disease inherited?

Answer 11

Autosomal recessive (p.111)

Question 12

How is Cori’s disease inherited?

Answer 12

Autosomal recessive (p.111)

Question 13

How is McArdle’s disease inherited?

Answer 13

Autosomal recessive (p.111)

Question 14

What is the general pathology associated with lysosomal storage diseases?

Answer 14

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

Question 15

Describe the findings associated with Fabry’s disease.

Answer 15

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

Question 16

Describe the findings associated with Gaucher’s disease.

Answer 16

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

Question 17

Describe the findings associated with Niemann Pick disease.

Answer 17

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

Question 18

Describe the findings associated with Tay-Sachs disease.

Answer 18

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

Question 19

Describe the findings associated with Krabbe’s disease.

Answer 19

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

Question 20

Describe the findings associated with Metachromatic leukodystrophy.

Answer 20

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

Question 21

Describe the findings associated with Hurler’s syndrome.

Answer 21

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

Question 22

Describe the findings associated with Hunter’s syndrome.

Answer 22

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

Question 23

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

Answer 23

A Sphingolipidosis (p.112)

Question 24

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

Answer 24

The most common sphingolipidosis (p.112)

Question 25

What type of lysosomal storage disease is Niemann Pick disease?

Answer 25

A Sphingolipidosis (p.112)

Question 26

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

Answer 26

A Sphingolipidosis (p.112)

Question 27

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

Answer 27

A Sphingolipidosis (p.112)

Question 28

What type of lysosomal storage disease is Metachromatic leukodystrophy?

Answer 28

A Sphingolipidosis (p.112)