Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency

Mol Genet Metab. 2003 Aug;79(4):288-93. doi: 10.1016/s1096-7192(03)00097-0.


CoQ transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There are very few reports on human CoQ deficiency. The clinical presentation is usually characterized by: epilepsy, muscle weakness, ataxia, cerebellar atrophy, migraine, myogloblinuria and developmental delay. We describe a patient who presented with neonatal liver and pancreatic insufficiency, tyrosinemia and hyperammonemia and later developed sensorineural hearing loss and Leigh syndrome. Liver biopsy revealed markedly reduced complex I+III and II+III. Addition of CoQ to the liver homogenate restored the activities, suggesting CoQ depletion. Histological staining showed prominent bridging; septal fibrosis and widening of portal spaces with prominent mixed inflammatory infiltrate, associated with interface hepatitis, bile duct proliferation with numerous bile plugs. Electron microscopy revealed a large number of mitochondria, which were altered in shape and size, widened and disordered intercristal spaces. This may be the first case of Leigh syndrome with liver and pancreas insufficiency, possibly caused by CoQ responsive oxphos deficiency.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Electron Transport Complex I / deficiency
  • Electron Transport Complex II / deficiency
  • Electron Transport Complex III / deficiency
  • Hearing Loss, Sensorineural / enzymology
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Hyperammonemia / enzymology
  • Infant
  • Leigh Disease / enzymology*
  • Leigh Disease / physiopathology
  • Liver / enzymology
  • Liver / pathology*
  • Liver / ultrastructure
  • Liver Failure, Acute / enzymology*
  • Liver Failure, Acute / pathology
  • Male
  • Metabolism, Inborn Errors / enzymology
  • Mitochondria, Liver / enzymology
  • Mitochondrial Diseases*
  • Oxidative Phosphorylation
  • Pancreas / enzymology
  • Pancreas / pathology
  • Ubiquinone / deficiency
  • Ubiquinone / metabolism*


  • respiratory complex II
  • Ubiquinone
  • Electron Transport Complex II
  • Electron Transport Complex I
  • Electron Transport Complex III