Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP.
- Author:
Fan TONG
1
;
Ping-Ping JIANG
;
Ru-Lai YANG
;
Xiao-Lei HUANG
;
Xue-Lian ZHOU
;
Fang HONG
;
Gu-Ling QIAN
;
Zheng-Yan ZHAO
;
Qiang SHU
Author Information
1. Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China. shuqiang@zju.edu.cn.
- Publication Type:Journal Article
- MeSH:
Acyl-CoA Dehydrogenase;
deficiency;
Carnitine;
China;
Follow-Up Studies;
Humans;
Infant, Newborn;
Lipid Metabolism, Inborn Errors;
Mutation;
Neonatal Screening;
Retrospective Studies
- From:
Chinese Journal of Contemporary Pediatrics
2019;21(1):52-57
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the epidemiological characteristics, phenotype, genotype, and prognosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in the Chinese population.
METHODS:A retrospective analysis was performed for the clinical data of the neonates who underwent screening with high-performance liquid chromatography-tandem mass spectrometry from January 2009 to June 2018 and were diagnosed with MCADD by gene detection.
RESULTS:A total of 2 674 835 neonates underwent neonatal screening, among whom 12 were diagnosed with MCADD. Gene detection was performed for 10 neonates with MCADD and found 13 mutation types at 16 mutation sites of the ACADM gene, among which there were 7 reported mutations (p.T150Rfs*4, p.M1V, p.R206C, p.R294T, p.G310R, p.M328V, and p.G362E), 5 novel mutations (p.N194D, p.A324P, p.N366S, c.118+3A>G, and c.387+1del G), and 1 exon 11 deletion; p.T150Rfs*4 was the most common mutation (4/16). The detection rate of mutation sites in the ACADM gene was 80%. No phenotype-genotype correlation was observed. Dietary guidance and symptomatic treatment were given after confirmed diagnosis. No acute metabolic imbalance was observed within 4-82 months of follow-up. All neonates had good prognosis except one who had brain dysplasia.
CONCLUSIONS:MCADD is relatively rare in southern China, and p.T150Rfs*4 is a common mutation in the Chinese population. Cases with positive screening results should be evaluated by octanoylcarnitine C8 value and gene detection.
