A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia

被引:1
作者
Chen, Wen [1 ,2 ]
Miao, Chenglin [3 ]
Li, Yingying [2 ,3 ]
Wang, Xia [2 ,3 ]
Wu, Wenjing [2 ,3 ]
Long, Qichen [4 ]
Jiang, Yongmei [2 ,3 ]
Yan, Ziyi [2 ,3 ,7 ]
Cui, Yali [3 ,5 ,6 ,8 ]
机构
[1] Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu, Sichuan, Peoples R China
[2] Sichuan Univ, Minist Educ, Key Lab Birth Defects & Related Dis Women & Childr, Chengdu, Sichuan, Peoples R China
[3] Sichuan Univ, West China Univ Hosp 2, Dept Lab Med, Chengdu, Sichuan, Peoples R China
[4] Cent South Univ, Xiangya Hosp 2, Dept Lab Med, Changsha, Hunan, Peoples R China
[5] Sichuan Univ, Alliance Hosp, Meishan Women & Childrens Hosp, West China Univ Hosp 2,Dept Lab Med, Meishan, Peoples R China
[6] Sichuan Univ, Sichuan Prov Childrens Hosp, West China Univ Hosp Tianfu 2, Dept Lab Med, Meishan, Peoples R China
[7] 20,Sect 3,South Renmin Rd, Chengdu 610041, Sichuan, Peoples R China
[8] 868 Dongpo Dist,Kesi Rd, Meishan, Sichuan, Peoples R China
关键词
isovaleric acidemia; isovaleryl-CoA dehydrogenase; gene mutation; newborn screening; inherited metabolic diseases; SPECTRUM; CORTEX;
D O I
10.7754/Clin.Lab.2023.230331)
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
Background: Isovaleric acidemia (IVA) is a rare autosomal-recessive metabolic disorder caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD). Deficiency of IVD leads to the accumulation of organic acids; however, the genotype-phenotype relationship has not been well established.Methods: Two brothers with acute neonatal IVA in a Chinese family were reported, and their clinical manifestations and examination were described. MS/MS and GCMS were used to perform organic acid analysis of blood samples and urine samples, and the patient's blood was sequenced by NGS and Sanger sequencing of the ivd gene.Results: Sequence analysis of the ivd gene identified compound heterozygous mutations in the patient, the c.250T>C (p.W84R) missense mutation (novel) and the c.466-3_466-2 delCAinsGG splicing mutation, which were inherited from their parents. Various bioinformatics prediction algorithms suggest that the p.W84R missense mutation may destabilize the IVD monomer and reduce its ability to bind to substrates.Conclusions: Both the clinical and genetic features of this family will help us to further expand the knowledge of IV A.
引用
收藏
页码:1985 / 1989
页数:5
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