Tandem mass spectrometry and genetic variant analysis of four neonates with very long chain acyl-coenzyme A dehydrogenase deficiency.
10.3760/cma.j.cn511374-20200922-00681
- VernacularTitle:四例极长链酰基辅酶A脱氢酶缺乏症患儿的串联质谱及基因变异分析
- Author:
Dongyang HONG
1
;
Yanyun WANG
;
Yun SUN
;
Dingyuan MA
;
Zhilei ZHANG
;
Wei CHENG
;
Tao JIANG
Author Information
1. Genetic Medicine Center, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University (Nanjing Maternal and Child Health Care Hospital), Nanjing, Jiangsu 210004, China. jiangzhang784@163.com.
- Publication Type:Journal Article
- MeSH:
Acyl-CoA Dehydrogenase/genetics*;
Acyl-CoA Dehydrogenase, Long-Chain;
Congenital Bone Marrow Failure Syndromes;
Genetic Testing;
Humans;
Infant, Newborn;
Lipid Metabolism, Inborn Errors;
Mitochondrial Diseases;
Muscular Diseases;
Tandem Mass Spectrometry
- From:
Chinese Journal of Medical Genetics
2022;39(3):276-281
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical features and genetic variants in four neonates with very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency.
METHODS:Neonates with a tetradecenoylcarnitine (C14:1) concentration at above 0.4 μmol/L in newborn screening were recalled for re-testing. Four neonates were diagnosed with VLCAD deficiency by MS-MS and genetic testing, and their clinical features and genotypes were analyzed.
RESULTS:All cases had elevated blood C14:1, and the values of first recalls were all lower than the initial test. In 2 cases, the C14:1 had dropped to the normal range. 1 case has remained at above 1 μmol/L after the reduction, and the remainder one case was slightly decreased. In total eight variants of the ADACVL genes were detected among the four neonates, which included 5 missense variants and 3 novel variants (p.Met344Val, p.Ala416Val, c.1077+6T>A). No neonate showed salient clinical manifestations.
CONCLUSION:Above findings have enriched the spectrum of ADACVL gene mutations and provided a valuable reference for the screening and diagnosis of VLCAD deficiency.
