BabyScreen+ newborn screening

Gene: COQ8A

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 4 MIM#612016

Publications

• 32337771

I don't know

Coenzyme Q8A (ADCK3) deficiency belongs to an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Several case-descriptions and a cohort of 59 patients have been described. In this cohort, patients showd mild to moderate progressive ataxia, cognitive impairment, epilepsy and movement disorders. CoQ10 supplementation led to clinical improvement in about half of the patients. (Source: Traschütz A. et al. Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. Ann Neurol. 2020. PMID: 32337771.)
age of onset 3 yr - 68 yr

From Treatable-ID:
Level of Evidence: 4 to 5
CoQ10: improves neurological manifestations (incl. neuro-imaging)

From Rx-genes:
Current Treatment CoQ10 supplementation
Evidence for Treatment expert opinion
Reference 1 www.ncbi.nlm.nih.gov/books/NBK410087
Reference 2 pubmed.ncbi.nlm.nih.gov/32337771/
Inheritance AR
Genes Included in Disease Frequency see COQ4
Is non-molecular testing available to confirm a molecular diagnosis? no
Experimental Treatment clinicaltrials.gov/ct2/results?cond=coenzyme+Q10+deficiency&term=&cntry=&state=&city=&dist=

Created: 28 Sep 2022, 4:53 a.m. | Last Modified: 28 Sep 2022, 4:53 a.m.

Panel Version: 0.266

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal