Contents

Search

mitochondrial disease

Genetics: - implicated genes - BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, TYMP [2] Laboratory: - mitochondrially encoded genomic sequence panel [2] - see ARUP consult [1] Management: - 3-parent in vitro fertilization may facilitate pregnancy (investigational)

Specific

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

General

disease

References

  1. ARUP Consult: Mitochondrial Diseases The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/mitochondrial-diseases
  2. CPT :accession 81440