IEMbase 0256: COQ8A-related Coenzyme Q8A (ADCK3) deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 256 |
| Nosology | 8.1.07.01 |
| Gene | COQ8A |
| External IDs | OMIM:612016; ORPHA:139485 |
| Generated mapping | MAPPED; Autosomal_Recessive_Ataxia_Due_to_Ubiquinone_Deficiency.yaml |
| Candidate DisMech targets | Autosomal_Recessive_Ataxia_Due_to_Ubiquinone_Deficiency.yaml; Primary_Coenzyme_Q10_Deficiency.yaml#COQ8A |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as COQ8A-related coenzyme Q8A (ADCK3) deficiency, with alternate labels chaperone-activity of BC1 complex-like/CABC1 deficiency and COQ8. The record is autosomal recessive and treatability is marked unknown.
The treatment section lists Coq10 as a vitamin and trace element strategy with level 4-5 evidence from PMID 32337771 for movement-disorder involvement. Biochemical rows include abnormal CoQ10 in fibroblasts and muscle and plasma lactate. Clinical rows include cognitive dysfunction, dystonia, and pyramidal signs. Characteristic rows include ataxia, epilepsy, and muscle weakness.
DisMech phenotype coverage
Autosomal_Recessive_Ataxia_Due_to_Ubiquinone_Deficiency.yaml is the correct
canonical target. The local entry covers biallelic COQ8A disease, also known as
primary coenzyme Q10 deficiency-4, ARCA2, or SCAR9, as a primary CoQ10
biosynthesis disorder with mitochondrial respiratory-chain dysfunction,
oxidative phosphorylation failure, oxidative stress, cerebellar injury,
progressive cerebellar ataxia, cerebellar atrophy, epilepsy, cognitive
impairment, developmental regression, hyperkinetic movement disorders including
dystonia and myoclonus, proximal muscle weakness, elevated lactate, reduced
CoQ10, and CoQ10 supplementation. The broader
Primary_Coenzyme_Q10_Deficiency.yaml#COQ8A subtype points back to this
standalone curation target.
Concordance and completeness
Judgement: correct dedicated-file mapping with high concordance.
IEMbase and DisMech agree on COQ8A/ADCK3 identity, autosomal recessive primary CoQ10 deficiency, low CoQ10 in patient tissues/cells, lactate elevation, ataxia, epilepsy, cognitive involvement, dystonia/movement disorder, pyramidal or multisystem neurologic involvement, muscle weakness, and CoQ10 treatment. DisMech is substantially richer for COQ8A-specific mechanism, neuroimaging, movement-disorder detail, and treatment-response context.
Curation actions
- Keep this record mapped to
Autosomal_Recessive_Ataxia_Due_to_Ubiquinone_Deficiency.yaml. - Retain
Primary_Coenzyme_Q10_Deficiency.yaml#COQ8Aas secondary umbrella context rather than the canonical mapping. - No mapping correction is needed.