A previously healthy 18-month-old boy presented with hepatomegaly, accompanied by liver injury. Imaging and liver biopsy findings suggested a hepatic glycogen storage disease (GSD) but not GSD type I. Genetic testing revealed a partial deletion of the PHKA2 gene, confirming the diagnosis of GSD type IXa. Initial treatment included ursodeoxycholic acid and portioned meals. However, the boy's liver injury continued to worsen. Subsequently, nightly oral cornstarch after meals and oral glycyrrhizin were introduced. Following the addition of cornstarch and glycyrrhizin, the patient's liver injury significantly improved. Liver injury caused by GSD is likely due to excessive glycogen accumulation in the hepatocytes. However, the detailed mechanism is unclear, particularly the minimal inflammatory cell infiltration observed in this case. While GSD IX has a good prognosis and resolves spontaneously, some patients develop hepatic fibrosis and adenomas. Cornstarch supplementation is a mainstay treatment for GSD to prevent hypoglycemia. It may also contribute to improved liver function by moderating glycogen buildup. The glycyrrhizin has also shown potential in reducing mitochondrial damage via another mechanism in this case, but additional research is warranted.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11880634PMC
http://dx.doi.org/10.7759/cureus.78396DOI Listing

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