All Modules Flashcards by Hannah Davies

Q

What is von Gierke’s disease?

A

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)

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Q

What is McArdle disease?

A

Muscle glycogen phosphorylase deficiency

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

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