Acid maltase deficiency occurs in
**Core Concept**
Acid maltase deficiency is a rare genetic disorder characterized by a deficiency of the enzyme acid alpha-glucosidase (GAA), also known as acid maltase. This enzyme is responsible for breaking down glycogen in lysosomes within muscle cells, leading to glycogen accumulation and muscle damage.
**Why the Correct Answer is Right**
The correct answer is related to the pathophysiology of acid maltase deficiency. Acid alpha-glucosidase (GAA) breaks down glycogen into glucose within lysosomes, where it is then transported out of the lysosome and into the cytosol for further metabolism. A deficiency of this enzyme leads to the accumulation of glycogen within lysosomes, causing lysosomal dysfunction and muscle cell damage. This process is known as glycogen storage disease type II (GSD II).
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because acid maltase deficiency is not associated with an overproduction of glycogen.
**Option B:** This option is incorrect because acid maltase deficiency is not caused by a mutation in the gene encoding for acid alpha-glucosidase, but rather a deficiency of the enzyme itself.
**Option C:** This option is incorrect because acid maltase deficiency is not typically associated with an increase in blood glucose levels.
**Clinical Pearl / High-Yield Fact**
Acid maltase deficiency is an autosomal recessive disorder, meaning that affected individuals are homozygous for the mutated gene encoding for acid alpha-glucosidase.
**Correct Answer: D. Pompe disease**