TP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis
| Autor: | Ksenija Fumić, Dorotea Ninković, Dalibor Šarić, Tamara Žigman, Saskia B. Wortmann, Daniel Dilber, Jasna Slaviček, Holger Prokisch, Katarina Šikić, Filip Rubić, Johannes A. Mayr, Dražen Belina, Ivo Barić, Danijela Petković Ramadža, Slobodan Galić |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Mutation business.industry Endocrinology Diabetes and Metabolism Mitochondrial disease medicine.medical_treatment 030209 endocrinology & metabolism Hyperammonemia Case presentation ATP synthase deficiency medicine.disease medicine.disease_cause Gastroenterology 03 medical and health sciences 0302 clinical medicine Endocrinology 030225 pediatrics Internal medicine Pediatrics Perinatology and Child Health medicine hemodialysis hyperammonemia Hemodialysis Differential diagnosis business Neurological impairment |
| Popis: | 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 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. Conclusion This broadens the so far known differential diagnosis of severe neonatal hyperammonemia requiring hemodialysis. |
| Databáze: | OpenAIRE |
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