Glycogen storage disease type I causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Causes
Like most serious enzyme deficiencies, GSD Ia is inherited as an autosomal recessive disease. Heterozygote carriers (parents) are asymptomatic. As for other autosomal recessive diseases, the recurrence risk for each subsequent child of the same parents is 25%.