Related Experiment Video

Updated: Mar 3, 2026

Assessment of Open Probability of the Mitochondrial Permeability Transition Pore in the Setting of Coenzyme Q Excess
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Assessment of Open Probability of the Mitochondrial Permeability Transition Pore in the Setting of Coenzyme Q Excess

Published on: June 1, 2022

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Coenzyme Q10 Supplementation in a Child with Biallelic COQ8A Variants: A Case Report

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
PubMed

Insights

Coenzyme Q10 (CoQ10) supplementation improved cerebellar ataxia and intellectual disability in a child with COQ8A deficiency. This highlights the potential benefits of early diagnosis and CoQ10 therapy for pediatric neurological disorders.

Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Pathogenic variants in COQ8A cause primary coenzyme Q10 (CoQ10) deficiency, leading to childhood-onset cerebellar ataxia and developmental delay.
  • Pediatric cases of COQ8A deficiency are rarely reported, and evidence for CoQ10 supplementation in children is limited.
Abstract

Keywords:
COQ8ACerebellar ataxiaCoenzyme Q10 deficiencyMitochondrial disorder

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