Conditions / Genetic
primary coenzyme Q10 deficiency 6
info · Genetic
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3.
Signs and symptoms
- Steroid-resistant nephrotic syndrome
- Focal segmental glomerulosclerosis
- Sensorineural hearing impairment
- Stage 5 chronic kidney disease
- Proteinuria
- Seizure
- Diffuse mesangial sclerosis
- Kidney stone
Also known as: COQ10D6; coenzyme Q10 deficiency, primary, 6; familial steroid-resistant nephrotic syndrome with sensorineural deafness