Glycogen Storage Disorders

Question 1

What is GSD 0?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

L3 S96

Answer 1

Name: GSD 0

Enzyme: Glycogen synthase

Glycogen: unable to synthesize

Symptoms: fasting hypoglycemia, muscle cramping

Question 2

What is GSD I?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

L3 S97

Answer 2

Name: Von Gierke

Enzyme: Glucose 6-phosphatase

Glycogen: Increased amount, unable to release glucose from the liver, normal structure

Symptoms: fasting hypoglycemia, lactic acidosis, hepatomegaly

Question 3

What is GSD II?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

L3 S98

Answer 3

Name: Pompe

Enzyme: Acid maltase (lysosomal)

Glycogen: Massive increased amount, normal structure

Symptoms: muscle weakness (skeletal and cardiac)

Question 4

What is GSD III?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

L3 S99

Answer 4

Name: Cori

Enzyme: α-1,6-glucosidase (debranching enzyme)

Glycogen: large number of short branches, increased amount

Symptoms: hepatomegaly

Question 5

What is GSD IV?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

L3 S100

Answer 5

Name: Andersen

Enzyme: glucosyl (4:6) transferase (branching enzyme)

Glycogen: long chains with few branches, normal amount

Symptoms: hepatospelnomegaly, cirrhosis

Question 6

What is GSD V?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

L3 S101

Answer 6

Name: McArdle

Enzyme: muscle glycogen phosphorylase

Glycogen: increased amount, normal structure

Symptoms: weakness, fatigue, cramping, excercise intolerance

Question 7

What is GSD VI?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

L3 S102

Answer 7

Name: Hers

Enzyme: liver glycogen phosphorylase

Glycogen: increased amount, normal structure

Symptoms: hepatomegly, hypoglycemia