Review Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature, 2023, Hojabri et al

This discusses CoQ10 deficiency disorder. I'm posting because it mentions exercise intolerance and cognitive dysfunction as symptoms multiple times, as well as because CoQ10 is an oft mentioned supplement in the ME/CFS world.

Abstract

Background:
Primary deficiency of coenzyme Q10 deficiency-4 (CoQ10D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia.

Case report:
We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4 mg/dL), lactate (7.5 mmol/L), and CoQ10 level (0.4 µg/mL). Brain-MRI demonstrated cerebellar atrophy, thinning of the corpus callosum, and loss of white matter. Whole exome sequencing showed a homozygous missense mutation (c.911C>T; p.A304V) in CoQ8A gene which is a rare mutation and responsible variant of CoQ10D4. After supplementary treatment with CoQ10 50 mg/twice a day for 2 months the clinical symptoms improved.

Conclusion:
These observations highlight the significance of the early diagnosis of potentially treatable CoQ8A mutation as well as patient education and follow-up. Our findings widen the spectrum of CoQ8A phenotypic features so that clinicians be familiar with the disease not only in severe childhood-onset ataxia but also in adolescence with accompanying psychiatric problems.

Article

 

I'm not sure the exercise intolerance in CoQ10 deficiency is very similar to PEM though. From another case report:

Other than that, I don't see many papers giving much detail of what exactly they mean by "exercise intolerance" in this condition.

But it makes me think it might be worth searching for papers about other conditions that use a term like "exercise intolerance" but are actually describing the symptoms of PEM.

 

When I got extensive blood testing my Coq10 was found to be very low. Way outside normal range. I thought that was just an ME/CFS thing, and taking coq10 supplements didn’t change anything for me, but now you’ve got me wondering…

 

Supplementing with good quality coq10 makes a notable positive difference to me. Could be worth trying a different brand!

 

It's possible higher doses are needed. From Phoenix Rising:

 

Linking the thread @Hutan made analyzing some of the literature on CoQ10 for ME/CFS and related disorders, showing that basically no effect has been shown in high-quality studies so far.

 

I feel like this is basically everything in relation to ME/CFS. Man we need so much more funding…