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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Ogata, Tsutomu / Toppari, Jorma

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IMPACT FACTOR 2017: 1.086

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Volume 30, Issue 10


Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report

Ensar Duras
  • Corresponding author
  • Okmeydani Training and Research Hospital Istanbul, TR, Department of Pediatrics, Istanbul, Turkey
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  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ahmet İrdem
  • Okmeydani Training and Research Hospital Istanbul, TR, Department of Pediatrics, Istanbul, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ozan Özkaya
  • Okmeydani Training and Research Hospital Istanbul, TR, Department of Pediatrics, Istanbul, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2017-08-18 | DOI: https://doi.org/10.1515/jpem-2016-0469


Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). This disorder mostly progresses with episodes of metabolic acidosis. Cardiomyopathy is among the cardiac complications known to occur during metabolic decompensation episodes. However, several recent papers emphasized the association of PA and long QT syndrome (LQTS) which may lead to extremely serious and fatal consequences. In this report, we describe two sisters with PA who have prolonged QT duration that were incidentally detected in an outpatient setting. LQTS was verified by electrocardiogram, stress test and 24 h rhythm holter monitoring. By this report, we want to emphasize the importance of early diagnosis of LQTS in asymptomatic patients with PA to prevent fatal complications.

Keywords: child; long QT syndrome; propionic academia


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About the article

Received: 2016-12-23

Accepted: 2017-07-17

Published Online: 2017-08-18

Published in Print: 2017-10-26

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 30, Issue 10, Pages 1133–1136, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2016-0469.

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