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Acute onset of ornithine transcarbamylase deficiency after total anomalous pulmonary venous connection repair to a 2-day-old neonate

Published online by Cambridge University Press:  12 April 2023

Hisashi Yoshida Open the ORCID record for Hisashi Yoshida [Opens in a new window] ,
Yusuke Iwata ,
Tai Fuchigami  and
Junko Katagiri
Hisashi Yoshida*
Affiliation:
Department of Pediatric Cardiac Surgery, Gifu Prefectural General Medical Center, Gifu, Japan
Yusuke Iwata
Affiliation:
Department of Pediatric Cardiac Surgery, Gifu Prefectural General Medical Center, Gifu, Japan
Tai Fuchigami
Affiliation:
Department of Pediatric Cardiac Surgery, Gifu Prefectural General Medical Center, Gifu, Japan
Junko Katagiri
Affiliation:
Department of Pediatric Cardiac Surgery, Gifu Prefectural General Medical Center, Gifu, Japan
*
Author for correspondence: H. Yoshida, MD, Department of Pediatric Cardiac Surgery, Gifu Prefectural General Medical Center, 4-6-1 Noisshiki, Gifu, 500-8717, Japan. Tel: +81-58-246-1111; Fax: +81-58-248-3805. E-mail: hisa042889@gmail.com
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Abstract

Ornithine transcarbamylase deficiency is an X-linked disorder which results in the accumulation of ammonia causing irritability and vomiting. Acute hyperammonemia requires rapid and intensive intervention. However, as those clinical features are non-specific and commonly seen in peri-operative situation, ornithine transcarbamylase deficiency could be difficult to diagnose prior to and post-emergency cardiac surgery. We report a 2-day-old male neonate who was diagnosed with ornithine transcarbamylase deficiency presenting hyperammonemia and severe heart failure after total anomalous pulmonary venous connection repair.

Keywords

Total anomalous pulmonary venous connectionornithine transcarbamylase deficiencyde novo mutation
Type
Brief Report
Information
Cardiology in the Young , Volume 33 , Issue 9 , September 2023 , pp. 1775 - 1776
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Copyright
© The Author(s), 2023. Published by Cambridge University Press

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