Metabolic Insight from Genetic Disease Flashcards
1
Q
What is ‘Von Gierke’s disease’?
A
defiency of glucose-6-phosphatase so cannot undergo gluconeogenesis
2
Q
What is ‘McArdles disease’?
A
glycogen phosphorylase deficiency in the muscle and therefore they cannot breakdown glycogen so cannot exercise with ease
3
Q
What is ‘Her’s disease’?
A
liver glycogen phosphorylase deficiency meaning difficulty in exercising for prolonged period of exercise and struggle to maintain blood glucose levels
