New mutation of ACADVL-related very long chain acyl-CoA dehydrogenase deficiency
10.3760/cma.j.issn.2095-428X.2018.20.011
- VernacularTitle:极长链酰基辅酶A脱氢酶缺乏症ACADVL基因新发突变
- Author:
Xiaohua LI
1
;
Baiyu CHEN
;
Rui XIAO
;
Mengli ZHUANG
;
Hang YU
;
Lijun YANG
Author Information
1. 内蒙古医科大学附属医院儿科
- Keywords:
Very long chain acyl-CoA dehydrogenase deficiency;
ACADVL;
Mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(20):1568-1572
- CountryChina
- Language:Chinese
-
Abstract:
Objective According to the clinical and gene mutation characteristics of ACADVL-related very long chain acyl-CoA dehydrogenase deficiency(VLCADD),the types that contribute to the gene mutation of ACADVL were summarized.Methods By analyzing clinical,laboratory and genetic data of 1 case with ACADVL-related very long chain acyl-CoA dehydrogenase deficiency diagnosed from Department of Pediatrics,the Affiliated Hospital of Inner Mongolia Medical University in August 2016,based on the agreement signed by both the litde patient's parents and the hospital,plus the high-throughput sequencing analysis and PCR sequencing test for the 2 generation genes,some presented mutation sites were analyzed and concluded,in addition to taking "ACADVL" as key words to search the databases from CNKI,Wanfang(updated in 2016) as well as PubMed and related documents from On-line Mendal Inheritant databases of Man (OMIM) and HGMD.Results Through physical examination,VLCADD was diagnosed.After being given Levocamitine and the diet likemedium-chain fatty acid food for a week,the metabolism returned to normal.Tracking him for 3 months,his hepatitis obviously rebounded,within the reach of 3 cm under the right rib and 1 cm under the xiphoid.The exome sequencing study (trios) was identified the novel heterozygous mutation according to the statistics below A CAD VL (N M_000018.3) Exon7:c.608 C ＞ T;p.(Pro203 Leu) (heterozygous) and A CAD VL (NM _000018.3) Exon18:c.1748C ＞ T;p.(Ser583Leu) (heterozygous) in ACADVL.Relevant literature reported suggest these two mutations from both the parents are pathogenic genes,which can account for the reason why the boy got ill.However,these two mutations had not been reported in ACADVL-related VLCADD so far.Up to now,73 types of mutations from documents index were related to the VLCADD,but the clinical case included 75 kinds of gene mutations.Conclusions The apparent symptoms of the boy with the gene mutation were reflected in abnormal heart rates,hepatomegaly and hypoglycemia.VLCADD was diagnosed through genetic testing,and systematic treatment can partly control the development of the disease.In conclusion,the findings (exon 7 and 18) show that according to the genetic tests,disease-causing genes from both parents are new mutations of ACADVL and they are pathogenic.
