Pompe disease is a progressive, multisystemic, debilitating, and often fatal neuromuscular disorder. It was first defined in 1932 by Dutch pathologist Joannes C. Pompe in a seven-month-old infant who died of idiopathic cardiac hypertrophy and was found to have massive glycogen accumulation in many tissues, but predominantly skeletal and cardiac muscles.,  In 1963 the disease was linked to an inherited deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), which is responsible for the breakdown of glycogen to glucose. The result is intralysosomal accumulation of glycogen, primarily in muscle cells, that leads to a progressive loss of muscle function.
Classification & Nomenclature
Pompe disease can be classified into several categories:
- Lysosomal storage disorders (LSDs) – There are more than 40 rare genetic disorders, all of which are caused by the deficiency or malfunction of a particular lysosomal enzyme.
- Glycogen storage diseases – A group of inherited disorders of glycogen metabolism. This classification focuses on the accumulated substance (glycogen) rather than the site of accumulation (lysosomes).
- Neuromuscular / metabolic muscle disease – These Diseases share a common feature of muscular degeneration (regardless of underlying pathology).
- Cardiac disorders – This classification is often used because of the striking cardiomyopathy and cardiomegaly seen in the majority of infants with Pompe disease.
As a result of these various classifications, Pompe disease is often referred as:
- Acid maltase deficiency (AMD)
- Glycogen storage disease (GSD) type II
- Glycogenosis type II
- Acid alpha-glucosidase deficiency
- Lysosomal alpha-glucosidase deficiency
In published scientific reports, the enzyme acid alpha-glucosidase (also called acid maltase) is commonly shortened to GAA for glucosidase acid alpha. GAA also referes to the name of the gene that encodes for acid alpha-glucosidase. The GAA enzyme may also be referred to as acid α-glucosidase and abbreviated as α-glu or AGLU. Please note: this website uses the “GAA” abbreviation.
- Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.
- Pompe J-C. Over idiopatische hypertropie van het hart. Ned Tijdscr Geneeskd 1932; 76:304.
- Hers HG. Alpha-glucosidase deficiency in generalized glycogen-storage disease (Pompe’s disease). Biochem J 1963; 86:11-16.
- Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 5568.
Ask a Medical Question
Genzyme Medical Information can answer questions about Pompe disease.
Ask a Question
Genzyme Support Services
Learn how Genzyme can help people affected by Pompe disease with medical information, advocacy, treatment support, and more.