Complex 3 mitochondrial respiratory chain deficiency


Complex III dificiency is one type of a mitochondrial diseases and a rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity.

Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency.

Source: wrongdiagnosis


  • Leber's myopathy
  • Cardiomyopathy
  • Progressive weakness of eye muscles
  • Tubulopathy
  • Encephalopathy
  • Liver failure
  • Progressive ataxia
  • Muscle weakness
  • Reduced reflexes
  • Dementia
  • Muscle problems
  • Mental confusion
  • Myoclonus
  • Exercise intolerance
  • Feeding problems
  • Vomiting
  • Bleeding from the stomach
  • Lactic acidosis
  • Kidney problems
  • Small head
  • Deafness
  • Blindness
  • Early death
  • Cholestasis
  • Increased liver enzymes
  • Brain damage
  • Reduced muscle tone
  • Retarded fetal growth
  • Low blood sugar

Source: wrongdiagnosis