{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T12:34:49Z","timestamp":1780144489449,"version":"3.54.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T00:00:00Z","timestamp":1695772800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82201898"],"award-info":[{"award-number":["82201898"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p><jats:italic>DGUOK<\/jats:italic> deficiency has primarily been associated with lethal hepatic failure with or without hypotonia, nystagmus, and psychomotor retardation, features typical of mitochondrial disease. A study in 3 Turkish children identified homozygosity for a variant in <jats:italic>DGUOK<\/jats:italic> as associated with idiopathic non-cirrhotic portal hypertension (INCPH). However, no further instances of INCPH associated with <jats:italic>DGUOK<\/jats:italic> variants have been reported. We here describe a fourth patient with <jats:italic>DGUOK<\/jats:italic> variants and childhood-onset INCPH, a 12-year-old Han Chinese boy, reporting clinical manifestations, histopathologic findings, and results of genetic studies. The child presented with hepatosplenomegaly; portal hypertension and hypersplenism were found. Vascular changes with hepatic fibrosis (Scheuer score 3) were observed on liver biopsy. Whole-exome sequencing and family analyses revealed compound heterozygosity for the <jats:italic>DGUOK<\/jats:italic> (NM_080916.3) variants c.778_781dup, (p.Thr261Serfs*28) and c.831_832del, (p.*278Thrfs*9) in the proband. These observations support ascription of instances of INCPH in children to variation in <jats:italic>DGUOK<\/jats:italic>.<\/jats:p>","DOI":"10.3389\/fped.2023.1236239","type":"journal-article","created":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T05:29:51Z","timestamp":1695878991000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese 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