Glycogen storage disease type I causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Causes

• Glycogen storage disease type 1 is an autosomal recessive disorder.
• Glycogen storage disease type 1a is caused by the deficiency of the glucose-6-phosphatase enzyme. The gene for the glucose-6-phosphatase enzyme is located on chromosome 17q21.
• Glycogen storage disease type 1b is caused by a defect in the microsomal glucose-6-phosphate transporter. The gene for the glucose-6-phosphatase enzyme is located on chromosome 11q23.