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.
Department of Anesthesiology, Kumamoto University School of Medicine, Japan.
K
K
Sugahara
T
T
Sadohara
T
T
Kawaguchi
T
T
Hirano
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