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

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

doi:10.1515/jpem-2020-0396

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

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

Department of Pediatrics

Research output: Contribution to journal › Case report › peer-review

Abstract

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.

Original language	English
Pages (from-to)	389-393
Number of pages	5
Journal	JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Volume	34
Issue number	3
DOIs	https://doi.org/10.1515/jpem-2020-0396
Publication status	Published - 26 Mar 2021

Keywords

Diagnosis, Differential
Female
Humans
Hyperammonemia/diagnosis
Infant, Newborn
Mutation
Proton-Translocating ATPases/deficiency
Renal Dialysis

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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. (2021). ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , 34(3), 389-393. https://doi.org/10.1515/jpem-2020-0396

Žigman, Tamara ; Šikić, Katarina ; Petković Ramadža, Danijela et al. / ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis. In: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM 2021 ; Vol. 34, No. 3. pp. 389-393.

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

abstract = "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.",

keywords = "Diagnosis, Differential, Female, Humans, Hyperammonemia/diagnosis, Infant, Newborn, Mutation, Proton-Translocating ATPases/deficiency, Renal Dialysis",

author = "Tamara {\v Z}igman and Katarina {\v S}iki{\'c} and {Petkovi{\'c} Ramad{\v z}a}, Danijela and Johannes Mayr and Saskia Wortmann and Holger Prokisch and Dorotea Ninkovi{\'c} and Daniel Dilber and Dalibor {\v S}ari{\'c} and Filip Rubi{\'c} and Slobodan Gali{\'c} and Jasna Slavi{\v c}ek and Dra{\v z}en Belina and Ksenija Fumi{\'c} and Ivo Bari{\'c}",

note = "Mayr; Wortmann: University Children{\textquoteright}s Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria",

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language = "English",

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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 2021, 'ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis', JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol. 34, no. 3, pp. 389-393. https://doi.org/10.1515/jpem-2020-0396

ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis. / Žigman, Tamara; Šikić, Katarina; Petković Ramadža, Danijela et al.
In: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , Vol. 34, No. 3, 26.03.2021, p. 389-393.

Research output: Contribution to journal › Case report › peer-review

TY - JOUR

T1 - ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis

AU - Žigman, Tamara

AU - Šikić, Katarina

AU - Petković Ramadža, Danijela

AU - Mayr, Johannes

AU - Wortmann, Saskia

AU - Prokisch, Holger

AU - Ninković, Dorotea

AU - Dilber, Daniel

AU - Šarić, Dalibor

AU - Rubić, Filip

AU - Galić, Slobodan

AU - Slaviček, Jasna

AU - Belina, Dražen

AU - Fumić, Ksenija

AU - Barić, Ivo

N1 - Mayr; Wortmann: University Children’s Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria

PY - 2021/3/26

Y1 - 2021/3/26

N2 - 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.

AB - 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.

KW - Diagnosis, Differential

KW - Female

KW - Humans

KW - Hyperammonemia/diagnosis

KW - Infant, Newborn

KW - Mutation

KW - Proton-Translocating ATPases/deficiency

KW - Renal Dialysis

U2 - 10.1515/jpem-2020-0396

DO - 10.1515/jpem-2020-0396

M3 - Case report

C2 - 33180048

SN - 0334-018X

VL - 34

SP - 389

EP - 393

JO - JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

JF - JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

IS - 3

ER -

Žigman T, Šikić K, Petković Ramadža D, Mayr J , Wortmann S, Prokisch H et al. ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM . 2021 Mar 26;34(3):389-393. doi: 10.1515/jpem-2020-0396

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

Abstract

Keywords

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