Glycogen storage disease type IV (Andersen disease) is caused by a deficiency of the glycogen branching enzyme. We report a case in which liver biopsy played a key role in establishing the diagnosis. A 2-year-old girl presented to our hospital with hepatomegaly. Despite extensive testing, no definitive diagnosis was made, prompting a liver biopsy. The biopsy tissue revealed characteristic cytoplasmic inclusions. Genetic analysis identified a mutation in the GBE1 gene, confirming the diagnosis of glycogen storage disease type IV. Various special stains were helpful in characterizing the accumulated substances.
SpacilZTatipakaHBarcenasM, et al. High-throughput assay of 9 lysosomal enzymes for newborn screening. Clin Chem. 2013;59(3):502-511. doi:10.1373/clinchem.2012.189936
4.
WyllieRHyamsJSKayM.Pediatric Gastrointestinal and Liver Disease. 6th ed.Elsevier; 2021.
5.
HusainNAStockerJTDehnerLP.STOCKER and DEHNER’S pediatric pathology. 4th ed.Wolters Kluwer; 2016.
6.
IijimaHIwanoRTanakaY, et al. Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: a report on a non-progressive form with a literature review. Mol Genet Metab Rep. 2018;17:31-37. doi:10.1016/j.ymgmr.2018.09.001
7.
DerksTGJPeeksFde BoerF, et al. The potential of dietary treatment in patients with glycogen storage disease type IV. J Inherit Metab Dis. 2021;44(3):693-704. doi:10.1002/jimd.12339
