Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 16, 2021; 9(2): 436-444
Published online Jan 16, 2021. doi: 10.12998/wjcc.v9.i2.436
Neonatal isovaleric acidemia in China: A case report and review of literature
Fang Wu, Shu-Juan Fan, Xi-Hui Zhou
Fang Wu, Shu-Juan Fan, Xi-Hui Zhou, Department of Neonatalogy, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710061, Shaanxi Province, China
Author contributions: Wu F participated in the design of the report, reviewed the literature and wrote the paper; Fan SJ was the patient’s internist and collected the data; Zhou XH designed the report and performed the preliminary revision of the article.
Informed consent statement: Consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xi-Hui Zhou, MD, Chief Physician, Full Professor, Department of Neonatalogy, The First Affiliated Hospital of Xi’an Jiaotong University, No. 277 Yanta West Road, Xi’an 710061, Shaanxi Province, China. zhouxihuixian@163.com
Received: August 25, 2020
Peer-review started: August 25, 2020
First decision: October 27, 2020
Revised: November 7, 2020
Accepted: November 21, 2020
Article in press: November 21, 2020
Published online: January 16, 2021
Processing time: 135 Days and 17.7 Hours
Core Tip

Core Tip: Isovaleric acidemia is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD), with a high mortality. We describe a 12-day-old male neonate diagnosed with IVD after tandem mass spectrometry and gas chromatography mass spectrometry analysis. Organic acid analysis of blood and urine showed extremely high concentrations of isovaleryl glycine. DNA sequencing of the IVD gene in the family revealed c.1193G>A mutation inherited from his mother and c.1208A>G mutation inherited from his father. Furthermore, the clinical characteristics and prognosis were discussed in combination with reported cases over the past 14 years.