Disease Information for Glycogen storage muscle disease/Pompe: Disease Mechanism & Classification

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Class
CLASS/Pediatric disorders (ex)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Pathophysiology
Pathophysiology/Acid maltase (acid a1,4 glucosidase) deficiency
Pathophysiology/Carbohydrate metabolic disorder
Pathophysiology/Gene locus 17q25
Pathophysiology/Gene locus Chromosome 17
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Infant/Child/Adult subtypes
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Metabolic myopathy (ex)
Pathophysiology/Muscle/Fibroblasts Decreased Acid Glucosidase
Pathophysiology/Diaphragm/respiratory muscles defect
Pathophysiology/Lung Hypoventilation
Pathophysiology/Lung Ventilation Neuromuscular
Pathophysiology/Gene locus 17q23
Pathophysiology/Gene locus 17q25.2-q25.3
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Glycogen metabolic defects (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
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