Genotype-phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital.

Twelve distinct variants were identified, including eight in G6PC and four in SLC37A4 , with one novel variant (c.1193G > A).

The most common G6PC variants were c.518 T > C, c.356 A > T, and c.648G > T, while c.706_708delGTG predominated in SLC37A4 .

Elevated liver enzymes and lactate levels were observed in all cases, and 88.2% had hypertriglyceridemia.

Dietary adherence was generally poor despite uncooked cornstarch therapy.