Glycogen Storage Disease Type II
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)
Year introduced: 1989(1975)
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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
MeSH Unique ID: D006009
Entry Terms:
- Acid Maltase Deficiency Disease
- Deficiency Disease, Acid Maltase
- Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
- GAA Deficiency
- Deficiencies, GAA
- Deficiency, GAA
- GAA Deficiencies
- Generalized Glycogenosis
- Generalized Glycogenoses
- Glycogenoses, Generalized
- Glycogenosis, Generalized
- Glycogen Storage Disease II
- Glycogen Storage Disease Type 2
- Glycogenosis 2
- Glycogenosis Type II
- Type II, Glycogenosis
- Type IIs, Glycogenosis
- GSD II
- Lysosomal alpha-1,4-Glucosidase Deficiency Disease
- Lysosomal alpha 1,4 Glucosidase Deficiency Disease
- Pompe Disease
- Disease, Pompe
- Pompe's Disease
- Disease, Pompe's
- Pompes Disease
- Deficiency of Alpha-Glucosidase
- Alpha-Glucosidase Deficiencies
- Alpha-Glucosidase Deficiency
- Deficiency of Alpha Glucosidase
- GSD2
- GSD2s
- Acid Alpha-Glucosidase Deficiency
- Acid Alpha Glucosidase Deficiency
- Acid Alpha-Glucosidase Deficiencies
- Alpha-Glucosidase Deficiencies, Acid
- Alpha-Glucosidase Deficiency, Acid
- Deficiencies, Acid Alpha-Glucosidase
- Deficiency, Acid Alpha-Glucosidase
- Glycogen Storage Disease Type II, Juvenile
- Juvenile Glycogen Storage Disease Type II
- Glycogen Storage Disease Type II, Infantile
- Infantile Glycogen Storage Disease Type II
- Acid Maltase Deficiency
- Acid Maltase Deficiencies
- Deficiencies, Acid Maltase
- Deficiency, Acid Maltase
- Maltase Deficiencies, Acid
- Alpha-1,4-Glucosidase Deficiency
- Alpha 1,4 Glucosidase Deficiency
- Alpha-1,4-Glucosidase Deficiencies
- Deficiencies, Alpha-1,4-Glucosidase
- Deficiency, Alpha-1,4-Glucosidase
- Adult Glycogen Storage Disease Type II
- Glycogen Storage Disease Type II, Adult
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