Case report of primary coenzyme Q10 deficiency caused by COQ8A gene mutation
10.3969/j.issn.1002-0152.2024.10.007
- VernacularTitle:COQ8A基因突变所致原发性辅酶Q10缺乏症1例
- Author:
Shu ZHU
1
;
Kai YU
;
Xianwei ZOU
Author Information
1. 成都医学院第一附属医院神经内科(成都 610500)
- Keywords:
COQ8A gene mutation;
Primary coenzyme Q10 deficiency;
Ataxia;
Seizure;
Autosomal recessive disease
- From:
Chinese Journal of Nervous and Mental Diseases
2024;50(10):605-607
- CountryChina
- Language:Chinese
-
Abstract:
Primary coenzyme Q10 deficiency is an autosomal recessive disorder caused by mutations in the genes encoding key enzymes in the biosynthesis of CoQ10.This paper reports for the first time a primary CoQ10 deficiency caused by a novel heterozygous mutation of coenzyme Q8A(COQ8A)gene.The patient was a 26-year-old male with slow-onset ataxia,movement intolerance,tremor and epilepsy as the main manifestations.Primary coenzyme Q10 deficiency was diagnosed and whole exome gene sequencing revealed compound heterozygous mutations in the COQ8A gene[NM_020247.5:exon8:c.1009G>A(p.A337T)and NM_020247.5:exon8:c.1078delC(p.Q360Sfs*20)].The symptoms improved after treatment with supplementation of CoQ10.This case report suggests that the possibility treatable primary CoQ10 deficiency should be considered when patients present with ataxia,dyskinesia,especially with epilepsy or cognitive impairment.
