一个患有双性COQ8A变异的儿童的辅酶Q10补充:一个案例报告
Hirotaka Motoi1, Risa Watanabe1, Ayano Shirai1
1Department of Children's Medical Center, Yokohama City University Medical Center, Yokohama, Japan.
Case reports in neurology
|March 2, 2026
概括
辅酶Q10 (CoQ10) 补充剂改善了COQ8A缺乏症儿童的小脑缩和智力障碍. 这突显了早期诊断和CoQ10治疗儿童神经系统疾病的潜在好处.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 生物化学 生化学
背景情况:
- 在COQ8A的致病变体导致初级辅酶Q10 (CoQ10) 缺乏,导致童年开始的大脑动症和发育迟缓.
- 很少报告COQ8A缺乏的儿童病例,儿童补充CoQ10的证据有限.
研究的目的:
- 报告COQ8A缺乏症的儿科病例,并评估对补充CoQ10的治疗反应.
- 评估CoQ10在改善神经症状和生物标志物的安全性和有效性.
主要方法:
- 一名7岁的男孩患有复合异性COQ8A变体,出现小脑缩和智力障碍,接受了口服CoQ10 (10 mg/kg/天) 的治疗.
- 评估神经功能是使用Scale for the Assessment and Rating of Ataxia (SARA) 来进行的.
- 在1年的治疗期间,血清CoQ10水平,智商 (IQ) 和脑部MRI都被监测.
主要成果:
- 患者的SARA得分显著改善 (17至9),血清CoQ10水平大幅增加 (622至9,100 ng/mL).
- 观察到轻微的认知能力改善 (智商从53增加到64).
- 大脑MRI显示大脑缩的稳定,没有报告任何不良影响.
结论:
- 辅酶Q10补充剂在临床上是有益的,并且对于儿科发病的COQ8A相关的动力衰竭是安全的.
- 早期的遗传诊断和及时的CoQ10启动可以显著改善神经结果,稳定儿童的疾病进展.
相关概念视频
Animal Mitochondrial Genetics
9.7K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
9.7K
Inborn Errors of Metabolism
962
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
962
Pharmacokinetics in Pediatric Patients: Drug Metabolism
293
In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
293
Cofactors and Coenzymes
88.1K
Enzymes require additional components for proper function. There are two such classes of molecules: cofactors and coenzymes. Cofactors are metallic ions and coenzymes are non-protein organic molecules. Both of these types of helper molecule can be tightly bound to the enzyme or bound only when the substrate binds.
88.1K
Cofactors and Coenzymes
13.0K
Enzymes are proteins made of amino acids. The functional group of each constituent amino acid catalyzes a wide variety of chemical reactions via ionic interactions or acid-base reactions. However, amino acids cannot catalyze oxidation-reduction and group transfer reactions and need to be aided by non-protein components called cofactors. Cofactors are also referred to as the chemical teeth of an enzyme.
Cofactors can be metallic ions or organic molecules called coenzymes. These types of helper...
Cofactors can be metallic ions or organic molecules called coenzymes. These types of helper...
13.0K
Cystic Fibrosis: Management
588
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
Sinus disease and chronic...
588


