NADH-diaphorase deficiency identified in a patient with congenital methaemoglobinaemia detected by pulse oximetry

Intensive Care Med. 1998 Jul;24(7):706-8. doi: 10.1007/s001340050648.

Abstract

We report on a young woman with congenital methaemoglobinaemia detected by a pulse oximeter during anaesthesia. Investigation of the patient and her family showed that the methaemoglobinaemia resulted from a recessive deficiency of NADH-diaphorase enzyme. A knowledge of the working principles and limitations of pulse oximetry is essential to determine appropriate management in desaturation episodes during the perioperative period.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anesthesia
  • Dihydrolipoamide Dehydrogenase / deficiency*
  • Female
  • Genes, Recessive
  • Humans
  • Methemoglobinemia / congenital*
  • Methemoglobinemia / diagnosis*
  • Methemoglobinemia / genetics
  • Methemoglobinemia / metabolism
  • Monitoring, Intraoperative
  • Oximetry / standards*
  • Pedigree
  • Reproducibility of Results

Substances

  • Dihydrolipoamide Dehydrogenase