Important

It is possible that the main title of the report Pompe Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

• Acid Maltase Deficiency
• Alpha-1,4 Glucosidase Deficiency
• Cardiomegalia Glycogenica Diffusa
• Generalized Glycogenosis
• Glycogenosis Type II
• Lysosomal Glucosidase Deficiency

Disorder Subdivisions

Glycogen Storage Disease Type II

General Discussion

Pompe Disease is a hereditary metabolic disorder caused by the complete or partial deficiency of the enzyme acid alpha-glucosidase (also known as lysosomal alpha-glucosidase or acid maltase). This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes of many cell types but predominantly in muscle cells. The resulting cellular damage manifests as muscle weakness and/or respiratory difficulty.