Conditions / Genetic
primary coenzyme Q10 deficiency 2
info · Genetic
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.
Signs and symptoms
- Mild intellectual disability
- Hearing impairment
- Increased circulating lactate concentration
- Elevated lactate:pyruvate ratio
- Livedo reticularis
- Peripheral neuropathy
- Optic atrophy
- Aortic regurgitation
- Mitral regurgitation
- Macrocephaly
Also known as: COQ10D2; coenzyme Q10 deficiency, primary, 2; deafness-encephaloneuropathy-obesity-valvulopathy syndrome; hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome