Screening of jaundiced neonates for glucose-6-phosphate dehydrogenase deficiency.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is transmitted as an X-linked recessive disorder, and thus female infants are expected to be only rarely affected. Review of the records of 1,478 jaundiced newborn infants (728 boys and 750 girls) screened for G6PD deficiency at the Foothills Provincial Hospital in Calgary showed 41 (5.6%) boys and 17 (2.2%) girls with this disorder. In view of the unexpected and unexplained high frequency of G6PD deficiency in female infants, I recommend that screening for this disorder be done in selected jaundiced infants regardless of sex.
D000416:Alberta; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000150:complications*; D008297:Male; D012189:Retrospective Studies; D012737:Sex Factors