Glycogen Disoders

Question 1

Tarui’s disorder affects Muscular _____ enzyme, therefore although it results in a buildup of glycogen like in McArdle’s, it CANNOT perform proper glycoylsis. It is unresponsive to glucose administration.

Answer 1

PFK-1

Question 2

McArdle’s and Hers’ disorders both have problems with the Glycogen _____ enzyme, and so Glycogen accumulates. The key difference is that Hers’ only occurs in the _____.

Answer 2

• Phosphorylase

- Liver

Question 3

In Andersen’s disorder, you’re left with mega long, insoluble chains of glycogen. You would expect a defect in ____ enzyme.

Answer 3

Branching

Question 4

Von Gierke’s disease wipes out Glucose-6-Phosphatase, what two process are messed up by this?

Answer 4

1. Gluconeogenesis

2. Glycogenolysis

Question 5

In Cori’s Disorder you’re left with really tiny branches attached onto glycogen. Therefore, during the breakdown you would suspect _____ enzyme to be defective.

Answer 5

Debranching (a-1,6 Glucosidase)

Question 6

Why can’t glucose leave muscle?

Answer 6

It has no Glucose-6-Phosphatase

Question 7

In Von Gierk’s disorder, what happens to phosphate levels?

Answer 7

They go down, trapped on the Glucose-6-Phosphate

Question 8

Oral glucose is given to a patient with McArdle’s. They are able to respond because they can still carry out _____.

Answer 8

Glycolysis

Question 9

In Pompe’s disorder a-1,4 Glucosidase is affected in which organelle? And as a result causes Heart problems.

Answer 9

The Lysosome.