Bio & Biochem Quiz
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FOUNDATIONAL CONCEPT 1: BIOMOLECULES AND METABOLISM
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Two siblings develop episodic muscle weakness and dark urine after short bursts of exercise (e.g., sprinting). Between episodes, neurologic exam is normal. During an episode, labs show elevated creatine kinase and normal blood glucose. A muscle biopsy shows increased glycogen content. Enzyme assay reveals near-absent muscle glycogen phosphorylase activity due to a nonsense mutation in the PYGM gene. The biochemical concept is an inborn error of glycogen metabolism limiting rapid ATP generation from glycogenolysis. Based on the information provided, which outcome is most likely during high-intensity exercise?
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