All Modules

Question 1

What is von Gierke’s disease?

Answer 1

Glucose-6-phosphatase deficiency

• This is what would normally break down glucose-6-phosphate not glucose in liver
• This can’t happen leading to hepatomegaly

(MEH session 4)

Question 2

What is McArdle disease?

Answer 2

Muscle glycogen phosphorylase deficiency

- Leads to exhaustion as can’t mobilise glycogen stores from skeletal muscle