Case report of compound oxidative phosphorylation deficiency type 10 caused by a new site mutation of MTO1 gene
10.3760/cma.j.cn101070-20210511-00518
- VernacularTitle:MTO1基因新位点突变致复合型氧化磷酸化缺陷症10型1例
- Author:
Yanhong YU
1
;
Ziwei LU
;
Jiaqin LI
;
Yuan ZHUANG
;
Yan DENG
;
Jinbo LIU
;
Xing SHEN
Author Information
1. 西南医科大学附属医院儿科，四川省出生缺陷临床研究中心，泸州 646000
- Keywords:
MTO1 gene;
Compound oxidative phosphorylation deficiency type 10;
Mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(13):1026-1028
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a case of compound oxidative phosphorylation deficiency type 10 (COXPD10) caused by a new site mutation of MTO1 gene in the Department of Pediatrics, Affiliated Hospital of Southwest Medical University on December 29, 2020 were retrospectively analyzed.The patient was a 2 months and 19 days old boy of Han nationality.The main clinical manifestations were shortness of breath, hyperlactic acidemia, hyperammonemia and brain damage.Cardiac hypertrophy was not obvious.Heterozygous mutations at c. 344delA and c. 1055C>T sites in the MTO1 gene have not been reported in domestic and foreign literature.COXPD10 caused by MTO1 gene mutations may result in diversified clinical manifestations due to inconsistent mutation sites.For hyperlactic acidemia with unknown predisposing factors, early genetic examination should be conducted to confirm the possibility of COXPD10.
