Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology

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 he...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7235638/
https://www.ncbi.nlm.nih.gov/pubmed/32455116
http://dx.doi.org/10.1016/j.ymgmr.2020.100601
Descripción
Sumario: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.

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