Glycogen storage disease type I other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Other Diagnostic Studies
The diagnosis is definitively confirmed by liver biopsy with electron microscopy and assay of glucose-6-phosphatase activity in the tissue and/or specific gene testing, available in recent years.
Prenatal diagnosis has been made by fetal liver biopsy at 18-22 weeks of gestation, but no fetal treatment has been proposed. Prenatal diagnosis is possible with fetal DNA obtained by chorionic villus sampling when a fetus is known to be at risk.