117 Asian mitochondrial DNA (mtDNA) lineage F4 is associated with increased risk of developing metabolic syndrome Academic Article uri icon


  • Discussion: Only nine cases of liver transplantation have been reported in patients with mitochondrial respiratory chain defects. Of these, none specifically had deficiencies in complex IV activity. Six patients developed normally after transplantation, one developed psychomotor retardation and microcephaly, and two died from progression of neurologic disease. However all nine patients had normal neurologic examinations and development at the time of transplant as extrahepatic involvement was considered a contraindication to OLT. Conclusion: We report successful OLT in a child with complex IV deficiency in both liver and muscle with CNS involvement. OLT appears to have ameliorated the extra hepatic symptoms so far. Molecular studies are underway at this time. doi: 10.1016/j. mito. 2009.12. 111

publication date

  • March 1, 2010