Deficiency of the Voltage-Dependent Anion Channel: A Novel Cause of Mitochondriopathy

@article{Huizing1996DeficiencyOT,
  title={Deficiency of the Voltage-Dependent Anion Channel: A Novel Cause of Mitochondriopathy},
  author={Marjan Huizing and Wim Ruitenbeek and Friedrich P. Thinnes and Vito Depinto and Udo Wendel and Frans J. M. Trijbels and Leo M. E. Smit and Henk J Ter Laak and Lambert P. W. J. van den Heuvel},
  journal={Pediatric Research},
  year={1996},
  volume={39},
  pages={760-765}
}
A patient with a deficient voltage-dependent anion channel (VDAC) is reported, presenting clinically with psychomotor retardation and minor dysmorphic features. Biochemical studies on muscle mitochondria showed impaired rates of pyruvate oxidation and ATP production; however, no specific deficient activity of one of the mitochondrial enzymes was involved… CONTINUE READING