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Glycogen Storage Disease Type II MeSH Descriptor Data 2023


MeSH Heading
Glycogen Storage Disease Type II
Tree Number(s)
C10.228.140.163.100.435.340
C16.320.565.189.435.340
C16.320.565.202.449.500
C16.320.565.595.554.340
C18.452.132.100.435.340
C18.452.648.189.435.340
C18.452.648.202.449.500
C18.452.648.595.554.340
Unique ID
D006009
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D006009
Scope Note
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)
Entry Version
GLYCOGEN STORAGE DIS II
Entry Term(s)
Acid Alpha-Glucosidase Deficiency
Acid Maltase Deficiency
Acid Maltase Deficiency Disease
Adult Glycogen Storage Disease Type II
Alpha-1,4-Glucosidase Deficiency
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
Glycogen Storage Disease Type II, Adult
Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Juvenile
Glycogenosis 2
Glycogenosis Type II
Infantile Glycogen Storage Disease Type II
Juvenile Glycogen Storage Disease Type II
Lysosomal alpha-1,4-Glucosidase Deficiency Disease
Pompe Disease
Pompe's Disease
Previous Indexing
Glucosidases/metabolism (1966-1974)
Glycogenosis (1966-1974)
Heart Diseases (1966-1974)
See Also
Glucan 1,4-alpha-Glucosidase
Public MeSH Note
1989; see GLYCOGENOSIS 1975-88
History Note
1989(1975); use GLYCOGENOSIS 1975-1988
Date Established
1989/01/01
Date of Entry
1974/12/12
Revision Date
2013/07/08
Glycogen Storage Disease Type II Preferred
Glycogen Storage Disease Type II, Juvenile Narrower
Glycogen Storage Disease Type II, Infantile Narrower
Acid Maltase Deficiency Related
Adult Glycogen Storage Disease Type II Narrower
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