Glycogen Storage Disease Type II (Pompe's Disease)

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 Maltase Deficiency; Adult Glycogen Storage Disease Type II; Alpha-1,4-Glucosidase Deficiency; Deficiency Disease, Acid Maltase; Deficiency Disease, Lysosomal alpha-1,4-Glucosidase; 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 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; Disease, Pompe; Disease, Pompe's; Generalized Glycogenoses; Glycogenoses, Generalized; Glycogenosis 2s; Glycogenosis Type IIs; Glycogenosis, Generalized; IIs, Glycogenosis Type; Lysosomal alpha 1,4 Glucosidase Deficiency Disease; Maltase Deficiencies, Acid; Maltase Deficiency, 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
Networked: 919 relevant articles (66 outcomes, 87 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Glycogen Storage Disease Type II (Pompe's Disease)
2. Cardiomyopathies (Cardiomyopathy)
3. Fabry Disease (Fabry's Disease)
4. Gaucher Disease (Gaucher's Disease)
5. Glycogen Storage Disease (Glycogenosis)


1. Kishnani, Priya S: 72 articles (11/2015 - 08/2005)
2. Reuser, Arnold J J: 39 articles (03/2015 - 06/2002)
3. Raben, Nina: 34 articles (01/2015 - 03/2002)
4. van der Ploeg, Ans T: 33 articles (05/2015 - 06/2003)
5. Byrne, Barry J: 27 articles (10/2015 - 03/2002)
6. Young, Sarah P: 22 articles (01/2015 - 05/2003)
7. Koeberl, Dwight D: 20 articles (01/2015 - 04/2003)
8. Thurberg, Beth L: 19 articles (02/2013 - 11/2004)
9. Hwu, Wuh-Liang: 18 articles (01/2015 - 03/2004)
10. Chien, Yin-Hsiu: 18 articles (01/2015 - 09/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycogen Storage Disease Type II:
1. human GAA protein (Myozyme)FDA Link
2. alpha-Glucosidases (Acid Maltase)IBA
3. GlucosidasesIBA
4. GlycogenIBA
5. AntibodiesIBA
6. EnzymesIBA
7. AcarboseFDA LinkGeneric
8. IGF Type 2 Receptor (Insulin-Like-Growth-Factor II Receptor)IBA
9. bortezomib (Velcade)FDA Link
10. Periodic AcidIBA

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Enzyme Therapy
3. Mechanical Ventilators (Ventilator)
4. Anesthesia
5. Artificial Respiration (Mechanical Ventilation)