Molecular genetics and metabolism reports · 2020
Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.
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Ichimoto Keiko, Fujisawa Tomoo, Shimura Masaru, Fushimi Takuya, Tajika Makiko, Matsunaga Ayako, Ogawa-Tominaga Minako, Akiyama Nana, Naruke Yuki, Horie Hiroshi, Fukuda Tokiko, Sugie Hideo, Inui Ayano, Murayama Kei
Аннотация
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.