Intermittent ketogenic fasting with medium-chain triglycerides improves ataxia in COQ8A-related coenzyme Q10 deficiency: A case report

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2026-03-01 Epub Date: 2026-02-12 DOI:10.1016/j.ymgmr.2026.101296

Wiebke Hahn , Karla Erffmeier , Maximilian Schulze , Felix Zahnert , Susanne Knake , Panagiota-Eleni Tsalouchidou

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引用次数: 0

Abstract

Background

Mutations in COQ8A cause primary coenzyme Q10 deficiency, which can present clinically heterogeneously: Symptoms range from cerebellar ataxia, epilepsy, encephalomyopathy, macular degeneration to nephropathy. High-dose coenzyme Q10 supplementation is widely used, yet there is little evidence on complementary strategies, particularly for non-epileptic features such as cerebellar ataxia.

Case presentation

We report a 46-year-old female with genetically confirmed COQ8A-related coenzyme Q10 (CoQ10) deficiency, presenting with ataxia and epilepsy characterized by myoclonic and bilateral tonic–clonic seizures, who participated in a clinical protocol of ketogenic intermittent fasting, a method of intermittent fasting combined with medium-chain triglycerides (MCT) primarily designed for seizure management. The patient followed a 16:8 intermittent fasting regime combined with MCT intake for three months, followed by three months of all-alone intermittent fasting. Routine blood markers and brain MRI, including diffusion imaging were obtained before and after ketogenic fasting.

Results

During the study protocol, while no seizure reduction in myoclonic seizures could be observed, ataxia - quantified by the Scale for the Assessment and Rating of Ataxia (SARA) - improved significantly from 8.5 to 6.0 during the interventions. MRI showed a trend suggesting improved cerebellar microstructural integrity.

Conclusions

This case highlights the potential of ketogenic intermittent fasting as an adjunct therapy for mitochondrial ataxia. Ketogenic intermittent fasting was associated with clinically meaningful improvement of ataxia in a patient with COQ8A-related CoQ10 deficiency, suggesting that ketogenic dietary strategies may represent a promising adjunct therapeutic approach for mitochondrial ataxia. Future research should assess this intervention in larger patient cohorts to confirm its potential benefits.

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中链甘油三酯间歇生酮禁食改善辅酶q8a相关辅酶Q10缺乏症的失调：一个病例报告

COQ8A突变导致原发性辅酶Q10缺乏，其临床表现具有异质性：症状范围从小脑性共济失调、癫痫、脑肌病、黄斑变性到肾病。高剂量辅酶Q10补充剂被广泛使用，但很少有证据表明补充策略，特别是对于非癫痫性特征，如小脑性共济失调。病例介绍：我们报告了一名46岁的女性，基因证实coq8a相关的辅酶Q10 （CoQ10）缺乏，表现为肌阵挛性和双侧强直阵挛性癫痫，表现为失调和癫痫，她参加了生酮间歇性禁食的临床方案，这是一种间歇性禁食联合中链甘油三酯（MCT）的方法，主要用于癫痫发作管理。患者遵循16:8的间歇性禁食方案，并摄入MCT三个月，然后是三个月的单独间歇性禁食。在生酮禁食前后进行常规血液指标和脑MRI，包括弥散成像。结果在研究过程中，虽然没有观察到肌阵挛性发作的发作减少，但在干预期间，共济失调（由共济失调评估和评分量表（SARA）量化）从8.5显著改善到6.0。MRI显示小脑显微结构完整性改善的趋势。结论：本病例强调了生酮间歇性禁食作为线粒体共济失调辅助治疗的潜力。生酮间歇性禁食与coq8a相关CoQ10缺乏症患者共济失调的临床意义改善相关，表明生酮饮食策略可能是线粒体共济失调的一种有希望的辅助治疗方法。未来的研究应该在更大的患者群体中评估这种干预措施，以确认其潜在的益处。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.