Concept

Pompe disease

Properties

Alt label
  • Acid maltase deficiency
  • Glycogen storage disease type II
SES ID
  • 441284
  • 441286
  • 441288
Notation
  • 441284
In scheme
Broader
Definition
  • Inherited genetic mutation which prevents chemical reactions taking place during energy production so that muscle cells cannot work properly; leads to progressive disease.