Glycogen Storage Diseases

Question 1

What is the first step of forming glycogen?

Answer 1

Glucose-6-Phosphate -> Glucose-1-Phosphate

Question 2

What does UDP-Glucose Pyrophosphorylase do?

Answer 2

Converts Glucose-1-Phosphate to UDP-Glucose

Question 3

Glucose-1-Phosphate is converted to UDP-Glucose via which enzyme?

Answer 3

UDP-Glucose Pyrophosphorylase

Question 4

UDP-Glucose is converted to Glycogen by which enzyme?

Answer 4

Glycogen Synthase

Question 5

What is the first step of Glycogenolysis?

Answer 5

Glycogen -> Glucose-1-Phosphate

Question 6

Which enzyme converts Glycogen to Glucose-1-Phosphate?

Answer 6

Glycogen Phosphorylase

Question 7

What is the rate limiting enzyme in glycogen synthesis?

Answer 7

Glycogen Synthase

Question 8

What is the rate limiting enzyme in glycogenlysis?

Answer 8

Glycogen Phosphorylase

Question 9

What activates Glycogen Synthase?

Answer 9

Insulin

Question 10

What activates Glycogen Phosphorylase?

Answer 10

1) Glucagon
2) Epinephrine
3) cAMP

Question 11

Glycogen Synthase adds glycogen in which bonds?

Answer 11

Alpha-1,4 linkages

Question 12

What do branching enzymes do?

Answer 12

Add glycogen branches in alpha-1,6 linkages

Question 13

Which comes first: Glycogen Phosphorylase or De-branching enzymes?

Answer 13

Glycogen Phosphorylase

Question 14

Von Gierke Disease is characterized by which enzyme deficiency?

Answer 14

Glucose-6-Phosphatase

Question 15

What accumulates if we don’t have Glucose-6-Phosphatase (Von Gierke Disease)?

Answer 15

Glucose-6-Phosphate

Question 16

What are the clinical findings in Von Gierk’s Disease?

Answer 16

1) Hepatomegaly
2) Hypoglycemia
3) Hyperlipidemia
4) Hyperuricemia

Question 17

Which enzyme is deficient in Cori Disease?

Answer 17

De-branching enzyme (Alpha-1,6-Glucosidase)

Question 18

Cori disease has the same findings as:

Answer 18

Von Gierke disease

Question 19

In Cori disease, glycogen has an:

Answer 19

Abnormal structure

Question 20

What accumulates in Cori disease?

Answer 20

Abnormal glycogen

Question 21

Where is Glycogen Phosphorylase usually found?

Answer 21

1) Muscles
2) Liver

Question 22

Which disease occurs when Glycogen Phosphorylase is absent in the muscles?

Answer 22

McArdle’s Disease

Question 23

Which disease occurs when Glycogen Phosphorylase is absent in the liver?

Answer 23

Her’s disease

Question 24

What are the clinical findings in McArdle’s Disease?

Answer 24

1) Muscle cramps on exertion
2) Hypoglycemia on exertion
3) Myoglobinurua

Question 25

What are the clinical findings in Her’s Disease?

Answer 25

1) Fasting hypoglycemia!
2) Hepatomegaly

Question 26

Which enzyme is deficient in Anderson’s Disease?

Answer 26

Branching enzyme

Question 27

What are the clinical findings in Anderson’s disease?

Answer 27

Cirrhosis (FATAL!!)

Question 28

What happens if a LYSOSOME lacks a de-branching enzyme?

Answer 28

Pompe Disease

Question 29

Pompe Disease is when ___ lack a de-branching enzyme.

Answer 29

Lysosomes

Question 30

What are the clinical findings in Pompe disease?

Answer 30

Cardiomegaly

(Pompe affects the Pump)