Glycogen storage disease type IV (GSD IV) is a rare inborn metabolic disorder characterized by the accumulation of amylopectin-like glycogen in the liver or other organs. The hepatic subtype may appear normal at birth but rapidly develops to liver cirrhosis in infancy. Liver pathological findings help diagnose the hepatic form of the disease, supported by analyses of enzyme activity and GBE1 gene variants. Pathology usually shows periodic acid-Schiff (PAS) positive hepatocytes resistant to diastase. We report two cases of hepatic GSD IV with pathology showing PAS positive hepatocytes that were mostly digested by diastase, which differ from past cases. Gene analysis was critical for the diagnosis. Both cases were found to have the same variants c.288delA (p.Gly97GlufsTer46) and c.1825G > A (p.Glu609Lys). These findings suggest that c.1825G > A variant might be a common variant in the non-progressive hepatic form of GSD IV.

IV型糖原贮积病（GSD IV）是一种罕见的先天性代谢紊乱，其特征是支链淀粉样糖原在肝脏或其他器官中蓄积。肝亚型在出生时可能看起来正常，但在婴儿期迅速发展为肝硬化。肝病理结果可通过酶活性和GBE1的分析来帮助诊断该疾病的肝脏形式基因变异。病理学通常显示高碘酸希夫（PAS）阳性肝细胞对淀粉酶具有抗性。我们报告了2例肝GSD IV的病理，显示PAS阳性的肝细胞大部分被消化酶消化，这与以往的病例有所不同。基因分析对于诊断至关重要。发现这两种情况具有相同的变体c.288delA（p.Gly97GlufsTer46）和c.1825G> A（p.Glu609Lys）。这些发现表明，c.1825G>变体可能是GSD IV的非渐进性肝形式的常见变体。