Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi
10.3760/cma.j.issn.1003-9406.2019.11.003
- VernacularTitle: 广西中北部地区新生儿脂肪酸氧化障碍酰基肉碱谱筛查及基因检测
- Author:
Jianqiang TAN
1
;
Dayu CHEN
;
Jun HUANG
;
Rongni CHANG
;
Tizhen YAN
;
Ren CAI
Author Information
1. Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, Liuzhou, Guangxi 545001, China
- Publication Type:Journal Article
- Keywords:
Neonate;
Fatty acid oxidation disorder;
Tandem mass spectrometry;
Genetic testing
- From:
Chinese Journal of Medical Genetics
2019;36(11):1067-1072
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To determine the incidence and mutational types of fatty acid oxidation disorders (FAOD) in central-northern region of Guangxi.
Methods:A total of 62 953 neonates were screened for FAOD during December 2012 and December 2017. Acyl-carnitine profiling of neonatal blood sample was performed by tandem mass spectrometry using dry blood spots on a filter paper. The diagnosis of FAOD was confirmed by organic acid profiling of urea and genetic testing.
Results:Eighteen cases of FAOD were diagnosed among the 62 953 neonates. Among these, primary carnitine deficiency (PCD) was the most common type (n=13), which was followed by short-chain acyl-CoA dehydrogenase deficiency (SCADD) (n=2), medium- chain acyl-CoA dehydrogenase deficiency (MCADD) (n=1), multiple acyl-CoA dehydrogenase deficiency (MADD) (n=1), and carnitine palmitoyltransferaseⅡdeficiency (CPT ⅡD) (n=1). Genetic testing has revealed two previously unreported variants, i. e., c. 337G>A (p.Gly113Arg) of ACADS gene and c. 737G>T (p.Gly246Val) of ETFA gene.
Conclusion:PCD is the most common FAOD in central-northern Guangxi. Tandem mass spectrometry combined with genetic testing may facilitate early diagnosis of FAOD.
