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Physiology · Muscle physiology: energy metabolism
Sample itemA 19-year-old man has painful cramps and dark urine after sprinting but feels better after a brief rest (second wind). In an ischaemic forearm exercise test, venous ammonia rises but lactate does not. What is the physiological defect?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Inability to mobilise muscle glycogen, so anaerobic glycolysis yields no lactate
In McArdle disease, deficiency of muscle glycogen phosphorylase prevents glycogen breakdown, so ischaemic exercise cannot generate lactate by glycolysis. Muscle uses ATP without regeneration, leading to cramps and rhabdomyolysis with myoglobinuria, and ammonia rises as adenylate is deaminated. The second-wind phenomenon occurs as blood-borne glucose and fatty acids become available.
Option by option
A. Failure of acetylcholine release at the neuromuscular junction
Failure of release at the junction would cause fatigable weakness with a decrement, not metabolic findings.
B. Defective calcium re-uptake by the sarcoplasmic reticulum
Defective calcium re-uptake causes delayed relaxation, as in Brody disease, with normal lactate.
C. Inability to mobilise muscle glycogen, so anaerobic glycolysis yields no lactate (correct)
Absent glycogenolysis explains the flat lactate response with a normal ammonia rise.
D. Inability to oxidise long-chain fatty acids in mitochondria
Defective fatty acid oxidation causes exercise intolerance after prolonged exercise or fasting, with a normal lactate rise.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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