摘要：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.
关键词：Andersen disease ; GBE1 ; GSD IV ; M2BPGi ; Nutrition therapy ; GSD IV Glycogen storage disease type IV ; PAS periodic acid;Schiff ; GBE glycogen;branching enzyme ; SD standard deviation ; AST aspartate transaminase ; ALT alanine aminotransferase ; γ;GTP gamma;glutamyltransferase ; M2BPGi Mac;2 binding protein glycosylation isomer ; COI cut;off index ; PAS;D periodic acid;Schiff;diastase
