Conditions / Genetic
primary coenzyme Q10 deficiency 1
info · Genetic
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23.
Signs and symptoms
- Cerebellar atrophy
- Hypotonia
- Dysphagia
- Status epilepticus
- Episodic vomiting
- Global developmental delay
- Focal segmental glomerulosclerosis
- Right hemiplegia
- Proteinuria
- Decreased level of coenzyme Q10 in skeletal muscle
Also known as: COQ10D1; CoQ deficiency 1; CoQ10 deficiency, primary, 1; coenzyme Q deficiency 1; ubiquinone deficiency 1