Diagnosis of red cell G-6-PD deficiency in a Chinese neonate.
In a neonatal period, a red cell deficiency of glucose-6-phosphate dehydrogenase (G-6-PD) may result in jaundice, the severity of which will vary between patients. Diagnosis of this inborn error of metabolism presents a problem if there is a large number of young enzyme-rich red cells in circulation, and this paper details the technique used to confirm a red cell deficiency of G-6-PD in a neonate.
D044466:Asian People; D001663:Bilirubin / Q000097:blood; D002681:China / Q000208:ethnology; D004796:Clinical Enzyme Tests; D003937:Diagnosis, Differential; D004912:Erythrocytes / Q000201:enzymology; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012606:Scotland
D005954:Glucosephosphate Dehydrogenase; D001663:Bilirubin