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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 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
Networked: 1643 relevant articles (144 outcomes, 176 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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

Experts

1. Kishnani, Priya S: 126 articles (05/2022 - 08/2005)
2. van der Ploeg, Ans T: 70 articles (12/2022 - 06/2003)
3. Byrne, Barry J: 48 articles (03/2022 - 03/2002)
4. Raben, Nina: 47 articles (09/2022 - 03/2002)
5. Reuser, Arnold J J: 42 articles (06/2020 - 06/2002)
6. Koeberl, Dwight D: 33 articles (01/2021 - 04/2003)
7. Chien, Yin-Hsiu: 32 articles (01/2022 - 09/2006)
8. Hwu, Wuh-Liang: 31 articles (01/2022 - 03/2004)
9. Schoser, Benedikt: 27 articles (05/2022 - 10/2008)
10. van Doorn, Pieter A: 25 articles (12/2022 - 06/2003)

Drugs and Biologics

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

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Therapeutics
3. Mechanical Ventilators (Ventilator)
4. Enzyme Therapy
5. Investigational Therapies (Experimental Therapy)