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

• Published in: Journal of pediatric endocrinology & metabolism : JPEM Vol. 34; no. 3; pp. 389 - 393
• Main Authors: 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
• Format: Report
• Language: English
• Published: 26.03.2021
• ISSN: 2191-0251
• DOI: 10.1515/jpem-2020-0396

OBJECTIVESHyperammonemia 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 PRESENTATIONHere 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. CONCLUSIONThis broadens the so far known differential diagnosis of severe neonatal hyperammonemia requiring hemodialysis.