Acid maltase

Acid Maltase also known as lysosomal alpha-glucosidase or GAA is a crucial enzyme involved in the metabolism of glycogen. It is encoded by the GAA gene in humans.

Function

Acid maltase is responsible for the breakdown of glycogen to glucose in lysosomes. It is a necessary enzyme for the metabolism of glycogen, a primary source of energy during physical activity.

Clinical significance

Deficiency of acid maltase leads to a condition known as Pompe disease, also known as glycogen storage disease type II. This is a rare and often fatal disorder that affects the muscles and nerves, leading to progressive muscle weakness and respiratory failure.

Genetics

The GAA gene that encodes acid maltase is located on the long (q) arm of chromosome 17 at position 25.2. Mutations in this gene can lead to the development of Pompe disease.

See also

• Glycogen storage disease
• Lysosomal storage disease
• Pompe disease