title: Unsuspected glucose-6-phosphate dehydrogenase deficiency presenting as symptomatic methemoglobinemia with severe hemolysis after fava bean ingestion in a 6-year-old boy.
abstract: We report the occurrence of symptomatic methemoglobinemia in a previously healthy boy, who presented with severe acute hemolysis after fava bean ingestion. The methemoglobinemia revealed a previously unrecognized glucose-6-phosphate dehydrogenase (G6PD) deficiency. We discuss the pathophysiology of severe methemoglobinemia when associated with acute hemolysis, favism, and the common African G6PD A-variant [G6PD, VAL68MET, ASN126ASP]. In conclusion, screening for G6PD deficiency must be considered in symptomatic methemoglobinemia, especially in young boys, when associated with intravascular hemolysis.
authors.affiliation: Service de Pédiatrie, AP-HP, Hôpital Louis-Mourier, 178 rue des Renouillers, Colombes, 92700, France. marie-helene.odievre@lmr.aphp.fr.|INSERM, U763, Hôpital Robert-Debré, Paris, 75019, France. marie-helene.odievre@lmr.aphp.fr.|Faculté de Médecine, Université Paris Diderot, Paris, 75019, France. marie-helene.odievre@lmr.aphp.fr.
authors.forename: Marie-Hélène
authors.initials: MH
authors.lastname: Odièvre
authors.affiliation: Service de Pédiatrie, AP-HP, Hôpital Louis-Mourier, 178 rue des Renouillers, Colombes, 92700, France.
authors.forename: Névéna
authors.initials: N
authors.lastname: Danékova
authors.affiliation: Service de Pédiatrie, AP-HP, Hôpital Louis-Mourier, 178 rue des Renouillers, Colombes, 92700, France.
authors.forename: Bettina
authors.initials: B
authors.lastname: Mesples
authors.affiliation: Service des Urgences Pédiatriques, AP-HP, Hôpital Louis-Mourier, 178 rue des Renouillers, Colombes, 92700, France.
authors.forename: Myriam
authors.initials: M
authors.lastname: Chemouny
authors.affiliation: Laboratoire de Génétique Moléculaire et Biochimie, AP-HP, Hôpital Robert-Debré, 48 boulevard Sérurier, Paris, 75019, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Couque
authors.affiliation: Service de Pédiatrie, AP-HP, Hôpital Louis-Mourier, 178 rue des Renouillers, Colombes, 92700, France.|Service des Urgences Pédiatriques, AP-HP, Hôpital Louis-Mourier, 178 rue des Renouillers, Colombes, 92700, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Parez
authors.affiliation: Laboratoire de Génétique Moléculaire et Biochimie, AP-HP, Hôpital Robert-Debré, 48 boulevard Sérurier, Paris, 75019, France.|Faculté de Médecine, Université Paris Diderot, Paris, 75019, France.
authors.forename: Rolande
authors.initials: R
authors.lastname: Ducrocq
authors.affiliation: INSERM, U763, Hôpital Robert-Debré, Paris, 75019, France.|Laboratoire de Génétique Moléculaire et Biochimie, AP-HP, Hôpital Robert-Debré, 48 boulevard Sérurier, Paris, 75019, France.|Faculté de Médecine, Université Paris Diderot, Paris, 75019, France.
authors.forename: Jacques
authors.initials: J
authors.lastname: Elion
mesh_terms: D000462:Algeria; D002648:Child; D004435:Eating; D005236:Favism / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D005954:Glucosephosphate Dehydrogenase / Q000097:blood* / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D006461:Hemolysis / Q000187:drug effects; D053878:Hemolytic Agents / Q000008:administration & dosage / Q000009:adverse effects; D006801:Humans; D008297:Male; D008708:Methemoglobinemia / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D009154:Mutation; D031307:Vicia faba / Q000009:adverse effects
chemical_list: D053878:Hemolytic Agents; D005954:Glucosephosphate Dehydrogenase