Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.4.1.18 (branching enzyme)
 628 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There are 11 glycogen diseases (GSD), nine of which are associated with myopathy. Most of these glycogen storage myopathies are associated with dynamic symptoms and signs in that the major neuromuscular complaints are exercise-induced muscle pain, cramps, and myoglobinura (e.g., GSD V or McArdle's disease associated with myophosphorylase deficiency). The other types of glycogen storage myopathies are considered static in that they are associated with fixed weakness rather than dynamic symptoms and signs. The static glycogen storage myopathies include: GSD I or Pompe's disease (acid maltase or (-glucosidase deficiency), GSD II or Cori-Forbes disease (debranching enzyme deficiency), and GSD IV or Andersen's disease (branching enzyme deficiency). This article reviews the clinical, laboratory, electrophysiologic, histopathologic, and pathogenesis of these static GSD myopathies.
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PMID:Acid maltase deficiency and related myopathies. 1065 72