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Article

ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Mar 2021

Žigman Tamara, Šikić Katarina, Petković Ramadža Danijela, Mayr Johannes, Wortmann Saskia, Prokisch Holger, Ninković Dorotea, Dilber Daniel, Šarić Dalibor, Rubić Filip, Galić Slobodan, Slaviček Jasna, Belina Dražen, Fumić Ksenija, Barić Ivo

Abstract excerpt

OBJECTIVES: Hyperammonemia in a newborn is a serious condition, which requires prompt intervention as it can lead to severe neurological impairment and death if left untreated. The most common causes of hyperammonemia in a newborn are acute liver failure and inherited metabolic disorders. Several mitochondrial disorders have been described as a cause of severe neonatal hyperammonemia. CASE PRESENTATION: Here we...

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Identifiers

PMID: 33180048
DOI: 10.1515/jpem-2020-0396

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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