NADH-diaphorase deficiency identified in a patient with congenital methaemoglobinaemia detected by pulse oximetry.
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.
Sugahara
K
K
Department of Anesthesiology, Kumamoto University School of Medicine, Japan.
Sadohara
T
T
Kawaguchi
T
T
Hirano
T
T
D000293:Adolescent; D000758:Anesthesia; D008058:Dihydrolipoamide Dehydrogenase / Q000172:deficiency*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008708:Methemoglobinemia / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D016343:Monitoring, Intraoperative; D010092:Oximetry / Q000592:standards*; D010375:Pedigree; D015203:Reproducibility of Results
D008058:Dihydrolipoamide Dehydrogenase