High-Yield Facts from Previous Study Groups

Question 1

What two glycogen storage diseases have abnormal glycogen?

Answer 1

Cori - missing debranching enzyme so glycogen has short outer chains
Andersen - no branching enzyme so glycogen has no branches

Question 2

What are the consequences of hypoglycemia in someone with von Gierke’s disease?

Answer 2

• need to do fat and protein catabolism for energy

- hyperlipidemia, hyperuricemia, lactic acidosis

Question 3

What are the results of stimulation testing for someone with von Gierke’s?

Answer 3

-after testing with glucagon, fructose, galactose –> no rise in serum glucose

Question 4

What is the cause of death for a patient with Pompe’s?

Answer 4

restrictive cardiomyopathy - death at less than 2 years of age; due to increased glycogen in cardiac muscle (absence of lysosomal alpha 1, 4 glucosidase)

Question 5

What’s wrong in von Gierke’s? Their glycogen looks normal!

Answer 5

-no glucose-6-phosphatase means they can’t release stored glucose from the liver –> hepatomegaly and hypoglycemia

Question 6

Why is Cori’s more mild than von Gierke’s?

Answer 6

because gluconeogenesis is intact –> hypoglycemia is not so bad

Question 7

Which glycogen storage disease causes cirrhosis?

Answer 7

Andersen’s

Question 8

In which glycogen storage disease is there a deficiency of glycogen phosphorylase in the muscle? the liver? What does the glycogen look like?

Answer 8

muscle - McArdle’s
liver - Hers
glycogen is normal

Question 9

Why is the fasting hypoglycemia in Hers disease mild?

Answer 9

-gluconeogenesis compensates for the inability to break down glycogen stores

Question 10

What must patients with McArdle’s avoid?

Answer 10

-strenuous exercise –> get myoglobinuria, muscle weakness, cramps, and arrhythmia from electrolyte abnormalities