title: Prolonged indirect hyperbilirubinemia in a moderately preterm boy with Mediterranean glucose-6-phosphate dehydrogenase and glutathione S-transferase Mu 1 null mutations.
abstract: A 33-week gestation boy with Mediterranean glucose-6-phosphate dehydrogenase (G6PD) and a glutathione S-transferase Mu 1 null mutations (GSTM1*0/*0) developed prolonged indirect hyperbilirubinemia (PIH). He had no laboratory evidence of haemolysis or infection, and no exposure to oxidising agents. He has two full-term older brothers who have no history of neonatal hyperbilirubinemia. One brother, who was exclusively breast fed, has only Mediterranean G6PD and the other has only GSTM1*0/*0. The three boys have no mutation in the uridine diphosphate glucuronosyltransferase 1A1 gene. This suggests that a combination of all or any two of prematurity, G6PD deficiency and GSTM1*0/*0 is a possible risk factor for PIH. However, this remains to be confirmed.
authors.affiliation: Department of Pediatrics, King Abdulaziz Hospital, MNGHA, Al-Ahsa, Saudi Arabia.
authors.forename: Sameer Yaseen
authors.initials: SY
authors.lastname: Al-Abdi
mesh_terms: D000359:Aftercare; D003937:Diagnosis, Differential; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D005982:Glutathione Transferase / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000235:genetics* / Q000628:therapy; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D009154:Mutation / Q000235:genetics*; D010789:Phototherapy
chemical_list: D005982:Glutathione Transferase