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Open Access Green as soon as Postprint is submitted to ZB.
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)
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
ISSN (print) / ISBN
0334-018X
e-ISSN
2191-0251
Quellenangaben
Volume: 34,
Issue: 3,
Pages: 389-393
Publisher
de Gruyter
Publishing Place
Genthiner Strasse 13, D-10785 Berlin, Germany
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
Grants
(Horizon2020) through the E-Rare project GENOMIT
German Federal Ministry of Education and Research (BMBF)
German Federal Ministry of Education and Research (BMBF)