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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: [email protected]
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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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References

Summar, M. Current strategies for the management of neonatal urea cycle disorders. J Pediatr 2001; 138: S30–S39.10.1067/mpd.2001.111834CrossRefGoogle ScholarPubMed
Nagata, N, Matsuda, I, Oyanagi, K. Estimated frequency of urea cycle enzymopathies in Japan. Am J Med Genet 1991; 39: 228–229.10.1002/ajmg.1320390226CrossRefGoogle ScholarPubMed
Häberle, J, Burlina, A, Chakrapani, A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis 2019; 42: 1192–1230.10.1002/jimd.12100CrossRefGoogle ScholarPubMed
Brassier, A, Gobin, S, Arnoux, JB, et al. Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients. Orphanet J Rare Dis 2015; 10: 58.10.1186/s13023-015-0266-1CrossRefGoogle ScholarPubMed
Chiong, M, Bennetts, B, Strasser, S, Wilcken, B. Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery. Med J Aust 2007; 186: 418–419.10.5694/j.1326-5377.2007.tb00976.xCrossRefGoogle ScholarPubMed
Urits, I, Orhurhu, V, Jones, MR, et al. Postoperative nausea and vomiting in paediatric anaesthesia. Turk J Anaesthesiol Reanim 2020; 48: 88–95.10.5152/TJAR.2019.67503CrossRefGoogle ScholarPubMed
Cummings, ED, Swoboda, HD. Digoxin toxicity. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island, FL, 2022.Google Scholar
Mattke, AC, Shikata, F, McGill, J, Justo, R, Venugopal, P. Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy. JIMD Rep 2020; 55: 12–14.10.1002/jmd2.12135CrossRefGoogle ScholarPubMed
Mayatepek, E, Kurczynski, TW, Hoppel, CL, Gunning, WT. Carnitine deficiency associated with ornithine transcarbamylase deficiency. Pediatr Neurol 1991; 7: 196–199.10.1016/0887-8994(91)90084-XCrossRefGoogle ScholarPubMed
Fu, L, Huang, M, Chen, S. Primary carnitine deficiency and cardiomyopathy. Korean Circ J 2013; 43: 785–792.10.4070/kcj.2013.43.12.785CrossRefGoogle ScholarPubMed