Structured Summary
Abstract
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
MeSH Record
Classification
Related Concepts
Knowledge Graph
Drag nodes to rearrange; hover to trace links; click a node to open its page.
MeSH Record
See Also
MeSH Record
Synonyms
54 entry terms
- Acid Alpha-Glucosidase Deficiency
- Acid Maltase Deficiency Disease
- Deficiency Disease, Acid Maltase
- Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
- Deficiency of Alpha-Glucosidase
- GAA Deficiency
- GSD II
- GSD2
- Generalized Glycogenosis
- Glycogen Storage Disease II
- Glycogen Storage Disease Type 2
- Glycogenosis 2
- Glycogenosis Type II
- Lysosomal alpha-1,4-Glucosidase Deficiency Disease
- Pompe Disease
- Pompe's Disease
- Acid Alpha Glucosidase Deficiency
- Acid Alpha-Glucosidase Deficiencies
- Alpha-Glucosidase Deficiencies
- Alpha-Glucosidase Deficiencies, Acid
- Alpha-Glucosidase Deficiency
- Alpha-Glucosidase Deficiency, Acid
- Deficiencies, Acid Alpha-Glucosidase
- Deficiencies, GAA
- Deficiency of Alpha Glucosidase
- Deficiency, Acid Alpha-Glucosidase
- Deficiency, GAA
- Disease, Pompe
- Disease, Pompe's
- GAA Deficiencies
- GSD2s
- Generalized Glycogenoses
- Glycogenoses, Generalized
- Glycogenosis, Generalized
- Lysosomal alpha 1,4 Glucosidase Deficiency Disease
- Pompes Disease
- Type II, Glycogenosis
- Type IIs, Glycogenosis
- Acid Maltase Deficiency
- Adult Glycogen Storage Disease Type II
- Alpha-1,4-Glucosidase Deficiency
- Glycogen Storage Disease Type II, Adult
- Glycogen Storage Disease Type II, Infantile
- Glycogen Storage Disease Type II, Juvenile
- Infantile Glycogen Storage Disease Type II
- Juvenile Glycogen Storage Disease Type II
- Acid Maltase Deficiencies
- Alpha 1,4 Glucosidase Deficiency
- Alpha-1,4-Glucosidase Deficiencies
- Deficiencies, Acid Maltase
- Deficiencies, Alpha-1,4-Glucosidase
- Deficiency, Acid Maltase
- Deficiency, Alpha-1,4-Glucosidase
- Maltase Deficiencies, Acid
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
1989(1975); use GLYCOGENOSIS 1975-1988
MeSH Record
Previous Indexing
- Glucosidases/metabolism (1966-1974)
- Glycogenosis (1966-1974)
- Heart Diseases (1966-1974)
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Glycogen Storage Disease Type II. Medical Subject Headings (MeSH). 2026. Unique ID D006009. http://id.nlm.nih.gov/mesh/2026/D006009
- Glycogen Storage Disease Type II. In: Wikipedia. https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II
- Glycogen Storage Disease Type II. In: Wikidata. https://www.wikidata.org/wiki/Q1365789