https://scholars.lib.ntu.edu.tw/handle/123456789/641490
標題: | Epilepsy and Coenzyme Q10 deficiency with COQ4 variants | 作者: | Hsu, Chia-Jui WANG-TSO LEE |
關鍵字: | COQ4; Children; Coenzyme Q10 deficiency; Epilepsy; Mitochondria | 公開日期: | 十二月-2023 | 卷: | 149 | 來源出版物: | Epilepsy & behavior : E&B | 摘要: | Coenzyme Q10 (CoQ10) is one of the essential substances for mitochondrial energy synthesis and extra-mitochondrial vital function. Primary CoQ10 deficiency is a rare disease resulting from interruption of CoQ10 biosynthetic pathway and biallelic COQ4 variants are one of the genetic etiologies recognized in this hereditary disorder. The clinical heterogenicity is broad with wide onset age from prenatal period to adulthood. The typical manifestations include early pharmacoresistant seizure, severe cognition and/or developmental delay, dystonia, ataxia, and spasticity. Patients may also have multisystemic involvements such as cardiomyopathy, lactic acidosis or gastro-esophageal regurgitation disease. Oral CoQ10 supplement is the major therapeutic medication currently. Among those patients, c.370G > A variant is the most common pathogenic variant detected, especially in Asian population. This phenomenon also suggests that this specific allele may be the founder variants in Asia. In this article, we report two siblings with infantile onset seizures, developmental delay, cardiomyopathy, and diffuse brain atrophy. Genetic analysis of both two cases revealed homozygous COQ4 c.370G > A (p.Gly124Ser) variants. We also review the clinical manifestations of primary CoQ10 deficiency patients and possible treatment categories, which are still under survey. As oral CoQ10 supplement may improve or stabilize disease severity, early precise diagnosis of primary CoQ10 deficiency and early treatment are the most important issues. This review article helps to further understand clinical spectrum and treatment categories of primary CoQ10 deficiency with COQ4 variant. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/641490 | ISSN: | 15255050 | DOI: | 10.1016/j.yebeh.2023.109498 |
顯示於: | 醫學系 |
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