primary coenzyme Q10 deficiency 3

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21.

Signs and symptoms

• Nephrotic syndrome
• Feeding difficulties
• Increased circulating lactate concentration
• Hypoalbuminemia
• Focal motor status epilepticus
• Proteinuria
• Decreased level of coenzyme Q10 in skeletal muscle
• Focal T2 hyperintense basal ganglia lesion
• Edema
• Cerebral visual impairment

Also known as: COQ10D3; coenzyme Q10 deficiency, primary, 3