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Genetic and Rare Diseases Information Center (GARD)

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Glycogen storage disease type 4

Other Names for this Disease
  • Amylopectinosis
  • Andersen disease
  • Brancher deficiency
  • Cirrhosis, familial, with deposition of abnormal glycogen
  • Glycogen branching enzyme deficiency
More Names
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How is glycogen storage disease type 4 inherited?

Glycogen storage disease type 4 is inherited in an autosomal recessive manner. This means that an individual must have 2 abnormal copies of the GBE1 gene to be affected (one abnormal copy inherited from each parent). Individuals with one abnormal copy of the GBE1 gene, such as the parents of an affected individual, are referred to as carriers. Carriers typically do not have signs or symptoms of an autosomal recessive condition. When two carriers of an autosomal recessive condition are having children, each of their children has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% chance to not be a carrier and not be affected.
Last updated: 12/23/2012