NADH-diaphorase deficiency identified in a patient with congenital methaemoglobinaemia detected by pulse oximetry.
case_report · Level V
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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.
Medical subject headings
- Dihydrolipoamide Dehydrogenase
- Methemoglobinemia
- Oximetry