mitochondrial disease

Genetics

• implicated genes
  • BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, TYMP

Laboratory

• mitochondrially encoded genomic sequence panel
• see ARUP consult

Management

• 3-parent in vitro fertilization may facilitate pregnancy (investigational)

More general terms

• disease

More specific terms

• hepatocerebral mitochondrial DNA depletion syndrome (ARHCMDS)
• mitochondrial myopathy
• mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)
• Navajo neurohepatopathy
• Pearson syndrome