Table 3 Evidence of mitochondrial dysfunction in genetic mouse models of FAOD
Enzyme deficiencyMitochondrial dysfunctionReferences
SCADMitochondrial swelling and microvesicular fatty changes in hepatocytes
Respiratory chain complex alterations
LCADLow concentrations of citric acid cycle intermediates[93]
VLCADAbnormal mitochondrial bioenergetics (uncoupled mitochondria, increase in glucose uptake and decrease in phosphocreatine/ATP ratio)
Induction of oxidative stress
MTP α subunit
Swelling and distortion of mitochondria
Induction of oxidative stress