A rare diagnosis during evaluation for metabolic dysfunction associated steatotic liver disease: Glycogen storage disease type Ia presenting during adolescence in a male with severe obesity

Metabolic dysfunction‐associated steatotic liver disease (MASLD) is a common comorbidity of pediatric obesity that predisposes patients to hepatocellular adenomas (HCAs). HCAs however are nonspecific to MASLD and warrant further evaluation. We present a case of a 16‐year‐old male with severe obesity, and persistently elevated liver enzymes, initially evaluated for MASLD. Imaging revealed multiple hepatic lesions consistent with HCAs, prompting further genetic evaluation. Trio exome sequencing identified biallelic variants in the glucose‐6‐phophatase gene, confirming a diagnosis of glycogen storage disease type Ia (GSD Ia). This case highlights the diagnostic challenge posed by overlapping features of MASLD and GSD Ia, particularly hepatic steatosis, HCAs, and metabolic syndrome. Initial management of MASLD with glucagon‐like peptide‐1 therapy was discontinued given risk for hypoglycemia, and the patient continues glucose monitoring and cornstarch therapy. This case emphasizes the importance of including inborn errors of metabolism in the differential diagnosis for multifocal HCAs and concerns with obesity treatments.