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)

Also Known As:

Pompe's Disease; Glycogenosis Type II; Acid Alpha-Glucosidase Deficiency; Acid Maltase Deficiency; 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; 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; Infantile Glycogen Storage Disease Type II; Juvenile Glycogen Storage Disease Type II; Acid Alpha Glucosidase Deficiency; Acid Alpha-Glucosidase Deficiencies; Acid Maltase Deficiencies; Alpha 1,4 Glucosidase Deficiency; Alpha-1,4-Glucosidase Deficiencies; Alpha-Glucosidase Deficiencies; Alpha-Glucosidase Deficiencies, Acid; Alpha-Glucosidase Deficiency; Alpha-Glucosidase Deficiency, Acid; Deficiencies, Acid Alpha-Glucosidase; Deficiencies, Acid Maltase; Deficiencies, Alpha-1,4-Glucosidase; Deficiencies, GAA; Deficiency of Alpha Glucosidase; Deficiency, Acid Alpha-Glucosidase; Deficiency, Acid Maltase; Deficiency, Alpha-1,4-Glucosidase; Deficiency, GAA; Disease, Pompe; Disease, Pompe's; GAA Deficiencies; GSD2s; Generalized Glycogenoses; Glycogenoses, Generalized; Glycogenosis, Generalized; Lysosomal alpha 1,4 Glucosidase Deficiency Disease; Maltase Deficiencies, Acid; Pompes Disease; Type II, Glycogenosis; Type IIs, Glycogenosis; Acid Maltase Deficiency Disease; Generalized Glycogenosis; Glycogenosis 2; Lysosomal alpha-1,4-Glucosidase Deficiency Disease; Pompe Disease

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Glycogen Storage Disease Type II: 1680
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Glycogen Storage Disease Type II: 1680
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Glycogen Storage Disease Type II: 1680
    - Inborn Errors Carbohydrate Metabolism
      - Glycogen Storage Disease: 1489
        Glycogen Storage Disease Type II: 1680
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Glycogen Storage Disease Type II: 1680
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Glycogen Storage Disease Type II: 1680
    - Inborn Errors Carbohydrate Metabolism
      - Glycogen Storage Disease: 1489
        Glycogen Storage Disease Type II: 1680
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Glycogen Storage Disease Type II: 1680

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R Hirschhorn Research Topics

Disease

Drug/Important Bio-Agent (IBA)