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Genetic and Rare Diseases Information Center (GARD)

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Glycogen storage disease type 3

Other Names for this Disease
  • Amylo-1,6-glucosidase deficiency
  • Cori disease
  • Forbes disease
  • Glycogen debrancher deficiency
  • Limit dextrinosis
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How is glycogen storage disease type 3 inherited?

Glycogen storage disease type 3 (GSDIII) is inherited in an autosomal recessive manner. This means that mutations in both copies of the disease-causing gene (usually one inherited from each parent) are necessary to cause the condition. Individuals with one abnormal copy of the gene are referred to as carriers; carriers are unaffected and typically do not show any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children together, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of his/her parents, and a 25% chance to not be a carrier and not have the condition.
Last updated: 2/13/2012