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

Keiko Ichimoto; Tomoo Fujisawa; Masaru Shimura; Takuya Fushimi; Makiko Tajika; Ayako Matsunaga; Minako Ogawa-Tominaga; Nana Akiyama; Yuki Naruke; Hiroshi Horie; Tokiko Fukuda; Hideo Sugie; Ayano Inui; Kei Murayama

doi:10.1016/j.ymgmr.2020.100601

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

Mol Genet Metab Rep. 2020 May 18:24:100601. doi: 10.1016/j.ymgmr.2020.100601. eCollection 2020 Sep.

Authors

Affiliations

¹ Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.
² Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohama-shi Tobu Hospital, 3-6-1 Shimosueyoshi, Tsurumi-ku, Yokohama 230-8765, Japan.
³ Department of Pathology, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.
⁴ Department of Pediatrics, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu 431-3192, Japan.
⁵ Faculty of Health and Medical Sciences, Tokoha University, 1230 Miyakodachou, Kita-ku, Hamamatsu 431-2102, Japan.

Abstract

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.

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

Publication types

Case Reports