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Article

Liver Biopsy-Associated Diagnosis of Glycogen Storage Disease Type IV (Andersen Disease).

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2026

Ishikawa Ryou, Kondo Takeo, Kondo Sonoko, Kishimoto Tomohiro, Kagawa Seiko, Haba Reiji

Abstract excerpt

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....

Read the complete abstract on PubMed

Topics

Humans
Female
Glycogen Storage Disease Type IV
Child, Preschool
Biopsy
Liver

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Hepatomegaly

Glycogen Debranching Enzyme System

Mutation

Source

Identifiers

PMID: 41913561
DOI: 10.1177/10935266261427156

Genes

GBE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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