Early-onset hepatic fibrosis linking to a novel PYROXD2 mutation: A case report

BACKGROUND Early-onset liver fibrosis is predominantly driven by inherited genetic mutations that disrupt critical metabolic or structural pathways in the liver. Pyridine nucleotide-disulfide oxidoreductase domain 2 (PYROXD2 ) (formerly named YueF) is a mitochondrial inner membrane/matrix-localized protein, regulating mitochondrial respiratory chain function. While emerging evidence highlights the role of PYROXD2 in mitochondrial redox homeostasis and respiratory chain integrity, its pathologica