Publication Name	World Journal of Clinical Cases
Manuscript ID	58935
Country	China

Category	Pediatrics
Manuscript Type	Case Report
Article Title	Neonatal isovaleric acidemia in China: A case report and review of literature
Manuscript Source	Unsolicited Manuscript
All Author List	Fang Wu, Shu-Juan Fan and Xi-Hui Zhou
Funding Agency and Grant Number
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
Key Words	Isovaleric acidemia; Isovaleryl-CoA dehydrogenase; Sweaty feet odor; Case report; Mental retardation; Literature review
Core Tip	Isovaleric acidemia (IVA) 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 by tandem mass spectrometry and gas chromatography mass spectrometry. 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 are discussed in combination with reported cases over the past 14 years.
Citation	Wu F, Fan SJ, Zhou XH. Neonatal isovaleric acidemia in China: A case report and review of literature. World J Clin Cases 2021; 9(2): 436-444

Received	2020-08-25 16:10
Peer-Review Started	2020-08-25 16:10
To Make the First Decision
Return for Revision	2020-10-27 05:20
Revised	2020-11-07 14:03
Second Decision	2020-11-16 11:27
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2020-11-21 06:15
Articles in Press	2020-11-21 06:15
Publication Fee Transferred
Edit the Manuscript by Language Editor	2020-12-03 22:38
Typeset the Manuscript	2021-01-06 02:02

ISSN	2307-8960 (online)
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