Which enzyme deficiency leads to Pompe’s disease?
**Core Concept**
Pompe's disease is a rare genetic disorder characterized by the accumulation of glycogen in lysosomes due to the deficiency of an enzyme responsible for glycogen breakdown. This enzyme deficiency leads to the accumulation of glycogen in various tissues, resulting in muscle weakness and other systemic complications.
**Why the Correct Answer is Right**
The correct answer is acid alpha-glucosidase, also known as acid maltase. This enzyme is responsible for breaking down glycogen into glucose within the lysosomes of muscle cells. A deficiency in acid alpha-glucosidase leads to the accumulation of glycogen, causing muscle weakness and other symptoms associated with Pompe's disease. The enzyme is encoded by the GAA gene and is a lysosomal enzyme that catalyzes the hydrolysis of alpha-1,4-glycosidic bonds in glycogen.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because acid alpha-glucosidase is the correct enzyme associated with Pompe's disease.
**Option B:** This option is incorrect because acid maltase is another name for acid alpha-glucosidase, which is the correct enzyme.
**Option C:** This option is incorrect because glycogen synthase is an enzyme involved in glycogen synthesis, not breakdown.
**Option D:** This option is incorrect because glucose-6-phosphatase is an enzyme involved in glucose metabolism and is not associated with Pompe's disease.
**Clinical Pearl / High-Yield Fact**
Pompe's disease is a rare genetic disorder that can be diagnosed through enzyme assays or genetic testing. It is essential to recognize the clinical features of Pompe's disease, such as muscle weakness and cardiomegaly, to initiate early treatment and improve patient outcomes.
**Correct Answer: D. glucose-6-phosphatase**