Which enzyme is deficient in Mc Ardle’s disease?
The core concept here is about glycogen metabolism. McArdle's disease is type V glycogen storage disease, right? The enzyme involved is muscle glycogen phosphorylase. So the correct answer should be the deficiency of glycogen phosphorylase in skeletal muscles.
Now, why is that the case? The enzyme glycogen phosphorylase breaks down glycogen into glucose-1-phosphate. If it's deficient, the muscle can't break down glycogen, leading to exercise intolerance and cramps. Classic symptoms include myalgia and myoglobinuria after exercise.
The wrong options might include other enzymes like glucose-6-phosphatase (type I, von Gierke), branching enzyme (type II, Pompe), or debranching enzyme (type III, Cori's). Each of these is associated with different types of glycogen storage diseases. Need to make sure each incorrect option is explained as to why it's not the right answer here.
Clinical pearl: Remember that McArdle's (type V) is phosphorylase deficiency in muscle. Exercise intolerance is a key feature. Also, the "second wind" phenomenon where after initial cramps, some patients can exercise again after resting. That's a high-yield fact for exams.
Let me structure the explanation with the required sections. Make sure to use bold for key terms and keep each section concise. Check the character count to stay under 2500. Avoid markdown headings as per the rules. Also, end with the correct answer line as specified.
**Core Concept**
McArdle's disease (Glycogen Storage Disease Type V) is caused by a deficiency of **muscle glycogen phosphorylase**, an enzyme critical for glycogenolysis in skeletal muscle. This enzyme catalyzes the breakdown of glycogen to glucose-1-phosphate, providing energy during exercise.
**Why the Correct Answer is Right**
**Glycogen phosphorylase** is the rate-limiting enzyme in muscle glycogen breakdown. Its deficiency prevents glucose mobilization during exercise, leading to exercise intolerance, muscle cramps, and rhabdomyolysis. Patients exhibit elevated creatine kinase (CK) and myoglobinuria after exertion due to muscle damage. Diagnosis is confirmed by measuring phosphorylase activity in muscle biopsy.
**Why Each Wrong Option is Incorrect**
**Option A:** *Glucose-6-phosphatase deficiency* causes von Gierke disease (Type I), characterized by hepatomegaly, hypoglycemia, and lactic acidosis.
**Option B:** *Branching enzyme deficiency* (Type III, Cori disease) leads to abnormal glycogen structure and liver/muscle involvement.
**Option C:** *Debranching enzyme deficiency* (Type II, Pompe disease) results in lysosomal glycogen accumulation, causing cardiomyopathy and muscle weakness.
**Clinical Pearl / High-Yield Fact**
McArdle’s disease presents with **exercise-induced muscle cramps** and **post-exertional myoglobinuria**. The