---

Associated genes

Gene
COQ2	Search ClinVar	Search ClinGen
COQ4	Search ClinVar	Search ClinGen
COQ6	Search ClinVar	Search ClinGen
COQ8A	Search ClinVar	Search ClinGen
COQ8B	Search ClinVar	Search ClinGen

---

Clinical features

The age of onset of coenzyme Q10 deficiency depends on the severity of deficit on coenzyme Q10. Severe cases will manifest with a progressive neurological disorder from infancy. Onset in people in their 60s with cerebellar ataxia has also been described.

The clinical features are extremely heterogenous.

Coenzyme Q10 deficiency may cause the following:

• Cerebellar ataxia
• Myopathy
• Nephrotic syndrome
• Visual loss

---

Investigations

Lactate may be elevated but a normal lactate does not exclude the diagnosis. Biochemically abnormalities associated with concurrent nephrotic syndrome may be seen including hypercholesterolaemia and hypoalbuminaemia.