Hahn S. Lysosomal acid alpha-glucosidase deficiency (Pompe disease, glycogen storage disease II, acid maltase deficiency). UpToDate. Available at https://www.uptodate.com/contents/lysosomal-acid-alpha-glucosidase-deficiency-pompe-disease-glycogen-storage-disease-ii-acid-maltase-deficiency. Accessed 6/22/2022.
Pompe Disease. Cleveland Clinic. Available at https://my.clevelandclinic.org/health/diseases/15808-pompe-disease. Accessed 6/22/2022.
Pompe Disease
What is Pompe Disease?
Pompe disease is a rare, inherited disease in which the body cannot process glycogen, a type of sugar. People with Pompe disease do not make enough of a chemical in the body called acid alpha-glucosidase (GAA). GAA is an enzyme that helps the body break down complex sugars. Without GAA, these sugars build up in the organs and muscles, causing serious symptoms or death. It is what is known as a lysosomal storage disease. There are 3 types of Pompe disease:
Classic early-onset appears within a few months of birth;
Non-classic early-onset appears around age 1; and
Late-onset appears later in childhood or in adulthood.(1,2)
Other condition names
- Alpha-1,4-glucosidase acid deficiency
- GSD due to acid maltase deficiency
- GSD type 2
- GSD type II
- Glycogen storage disease type 2
- Glycogen storage disease type II
- Glycogenosis due to acid maltase deficiency
- Glycogenosis type 2
- Glycogenosis type II
- Glycogen Storage Disease Due to Acid Maltase Deficiency
Inheritance type
Autosomal recessive
Prevalence
- Europe: 1-9 in 100,000
Age of Onset
- Adolescent
- Adult
- Antenatal
- Childhood
- Infancy
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.