Glycogen Storage Disease

Question 1

type 1 GSD

Answer 1

von Gierke disease - Glucose 6 phosphatase deficiency

Question 2

What happens in GSD I

Answer 2

Affects liver and kidneys
Hypoglycemia
Fatty liver
Hepato and renomegaly
Growth retardation and delayed puberty
Recurrent infections (Type Ib)
Glycogen Structure is normal

Question 3

What is GSD II name?

Answer 3

Pompe’s disease
Acid maltase - alpha 1-4 glucosidase bonds in the lysosome
(Cardiomegaly)

Question 4

What is GSD III?

Answer 4

Cori Disease - Debranching enzyme
4:4 transferase
alpha 1-6 glucosidase

Question 5

What is GSD IV?

Answer 5

Anderson’s disease - Branching Enzyme

Question 6

What is GSD V?

Answer 6

McArdle Disease - Glycogen Phosphorylase

Remember it happens in Muscles as McArdle has an M in it.

Question 7

What is GSD VI?

Answer 7

Hers Disease - Glycogen Phosphorylase

In liver as Hepatic -Hers

Question 8

Pompe disease is a GSD which is also a?

Answer 8

Lysosomal storage disease

Question 9

Which type of GSD has abnormal glycogen structure?

Answer 9

Type III GSD or Cori Disease

Question 10

In what type of GSD, blood glucose is normal?

Answer 10

Type II or Pompe disease

Question 11

What happens in GSD V?

Answer 11

Skeletal muscles are affected
Myoglobinemia and myoglobinuria may be seen
No rise in blood lactate after exercise