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Žigman, T.* ; Šikić, K.* ; Petković Ramadža, D.* ; Mayr, J.* ; Wortmann, S.* ; Prokisch, H. ; Ninković, D.* ; Dilber, D.* ; Šarić, D.* ; Rubić, F.* ; Galić, S.* ; Slaviček, J.* ; Belina, D.* ; Fumić, K.* ; Barić, I.*

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

J. Pediatr. Endocrinol. Metab. 34, 389-393 (2021)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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. Here we describe a new case of adenosine-triphosphate (ATP) synthase deficiency due to m.8528T>C mutation as a novel cause of severe neonatal hyperammonemia. So far six patients with this mutation have been described but none of them was reported to need hemodialysis in the first days of life. This broadens the so far known differential diagnosis of severe neonatal hyperammonemia requiring hemodialysis.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Atp Synthase Deficiency ; Hemodialysis ; Hyperammonemia; Infantile Cardiomyopathy; Mitochondrial
Language english
Publication Year 2021
Prepublished in Year 2020
HGF-reported in Year 2020
ISSN (print) / ISBN 0334-018X
e-ISSN 2191-0251
Journal Journal of Pediatric Endocrinology and Metabolism
Quellenangaben Volume: 34, Issue: 3, Pages: 389-393 Article Number: , Supplement: ,
Publisher de Gruyter
Publishing Place Genthiner Strasse 13, D-10785 Berlin, Germany
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503292-001
Grants (Horizon2020) through the E-Rare project GENOMIT
German Federal Ministry of Education and Research (BMBF)
DOI 10.1515/jpem-2020-0396
WOS ID WOS:000626416000014
Scopus ID 85096471438
PubMed ID 33180048
Erfassungsdatum 2020-11-30
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