Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 12
info · Genetic
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Aminoaciduria
- Hypoalbuminemia
- Prolonged prothrombin time
- Hypoglycemia
- Metabolic acidosis
- Lactic acidosis
- Increased circulating lactate concentration
- Increased CSF lactate
- Intraventricular hemorrhage
Also known as: MC4DN12