Maryem Sahli

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The GSDs are a group of inherited metabolic disorders resulting from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation [7]. GSD2 or Pompe disease is a monogenic autosomal recessive disorder caused by a deficiency of α-1,4-glucosidase, an enzyme required for the degradation of lysosomal glycogen [8]. The disorder was initially described by Johannes Pompe in 1932 [4].