Metabolism Quiz
Enzyme deficiency

McArdle disease (GSD V)

What is missing: Muscle glycogen phosphorylase.

Presentation
Exercise intolerance and cramps, dark urine after exertion, and a characteristic second wind

Why the signs follow

The diagnostic finding is that blood lactate does not rise during ischemic exercise, because muscle cannot mobilise its own glycogen to feed glycolysis. Blood glucose is entirely normal, because the liver enzyme is a different gene product.

Written for exam preparation, not for diagnosis.