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Glycogen Storage Disease 1a

Glycogen storage disease 1a (GSD 1a) is caused by an enzyme deficiency that prevents the liver from breaking down glycogen into glucose. Symptoms appear in early childhood and include dangerously low blood sugar (hypoglycemia), delayed development, recurrent infection, and enlargement of the liver, spleen, and kidneys.

GSD 1a can be managed through careful dietary restrictions.

Approximately 1 in 7l Ashkenazi Jews is a carrier of GSD 1a. Screening provides a carrier detection rate of at least 95%.