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Glycogen Storage Disease Type II
(Pompe's Disease)
Summary
Description:
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 Show All >>
Networked: 919
relevant articles (66 outcomes,
87 trials/studies)
for this Disease
Key Drugs and Agents for Glycogen Storage Disease Type II
Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
-
human GAA protein (Myozyme)
:
19 outcomes 16 studies in 87 results
:
FDA 3
-
alpha-Glucosidases (Acid Maltase)
:
11 outcomes 22 studies in 403 results
: IBA
-
Glucosidases
:
6 outcomes 6 studies in 159 results
: IBA
-
Glycogen
:
5 outcomes 6 studies in 254 results
: IBA
-
Antibodies
:
4 outcomes 3 studies in 19 results
: IBA
-
Enzymes
:
2 outcomes 2 studies in 18 results
: IBA
-
Acarbose
:
2 outcomes 1 study in 8 results
:
FDA 4
Generic
-
IGF Type 2 Receptor (Insulin-Like-Growth-Factor II Receptor)
:
2 outcomes in 5 results
: IBA
-
bortezomib (Velcade)
:
2 outcomes in 2 results
:
FDA 1
-
Periodic Acid
:
1 outcome in 3 results
: IBA
Show All >>
Diseases Related to Glycogen Storage Disease Type II
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Glycogen Storage Disease Type II (Pompe's Disease)
-
Cardiomyopathies (Cardiomyopathy)
-
Fabry Disease (Fabry's Disease)
-
Gaucher Disease (Gaucher's Disease)
-
Glycogen Storage Disease (Glycogenosis)
Show All >>
Key Therapies for Glycogen Storage Disease Type II
Efficacy Chart >>
-
Enzyme Replacement Therapy
:
33 outcomes 32 studies in 241 results
-
Enzyme Therapy
:
3 outcomes 5 studies in 20 results
-
Mechanical Ventilators (Ventilator)
:
3 outcomes in 8 results
-
Anesthesia
:
1 outcome in 5 results
-
Artificial Respiration (Mechanical Ventilation)
:
1 outcome in 4 results
Show All >>
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