Endogenous glucose production in patients with glycogen storage disease type Ia estimated by oral d-[6,6-2H2]-glucose.

This is the first study to quantify glucose Ra in GSDIa patients using oral d-[6,6-2H2] glucose. The test can reliably estimate EGP under conditions in which fasting tolerance is unaffected but does not discriminate between relative contributions of EGP (e.g., liver, kidney) and exogenous sources (e.g., dietary cornstarch). Future application is warranted for longitudinal monitoring after novel genome-based treatments in GSDIa patients in whom nocturnal dietary management can be discontinued.