Mc Ardles disease is due to deficiency of
McArdle's disease, also known as Glycogen Storage Disease Type V, affects the muscle. The key enzyme here is probably one involved in breaking down glycogen in muscle. The main enzymes involved in glycogen breakdown are glycogen phosphorylase. There's liver glycogen phosphorylase and muscle glycogen phosphorylase. Since McArdle's is muscle-specific, the deficiency would be in the muscle form of the enzyme.
So the answer should be muscle glycogen phosphorylase deficiency. Let me check the options. The correct answer was supposed to be option C, which is muscle glycogen phosphorylase. The other options are other enzymes related to glycogen metabolism. For example, von Gierke's disease is due to glucose-6-phosphatase deficiency, which is in the liver. Pompe's disease is alpha-glucosidase deficiency. Cori's disease is debranching enzyme. So the other options are different types of glycogen storage diseases with different enzymes. Therefore, the correct answer is C.
**Core Concept**
McArdle’s disease is a glycogen storage disease (Type V) caused by **muscle glycogen phosphorylase deficiency**, impairing glycogen breakdown in skeletal muscle. This leads to exercise intolerance, muscle cramps, and myoglobinuria due to anaerobic metabolism failure.
**Why the Correct Answer is Right**
Muscle glycogen phosphorylase catalyzes the rate-limiting step of glycogenolysis in muscle, producing glucose-1-phosphate for ATP generation during exercise. Its deficiency forces reliance on anaerobic glycolysis, causing rapid lactic acid buildup, ATP depletion, and muscle damage. Diagnosis is confirmed by low phosphorylase activity in muscle biopsy.
**Why Each Wrong Option is Incorrect**
**Option A:** *Glucose-6-phosphatase deficiency* causes von Gierke’s disease (Type I), a liver-dominant disorder with hypoglycemia and hepatomegaly.
**Option B:** *Alpha-glucosidase deficiency* leads to Pompe’s disease (Type II), characterized by lysosomal glycogen accumulation.
**Option D:** *Glycogen debranching enzyme deficiency* causes Cori’s disease (Type III), with partial glycogen breakdown and hepatic involvement.
**Clinical Pearl / High-Yield Fact**
McArdle’s patients experience “second wind” after initial exercise due to compensatory fat metabolism. Avoiding high-intensity exercise prevents rhabdomyolysis. Remember: **Type V = Phosphorylase (Phos) in Muscle**.
**Correct Answer: C. Muscle glycogen phosphorylase**