Complex 3 mitochondrial respiratory chain deficiency
Overview
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
Symptoms
- 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
Treatment