title: Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis.
abstract: Pyruvate kinase (PK) deficiency is asymptomatic in heterozygotes, but it can lead in homozygous neonates to a severe neonatal hemolysis, sometimes life-threatening. We report five cases, with a 1- to 17-month delayed diagnosis, highlighting the need to measure PK activity in neonates and parents in case of an hemolysis at birth.
authors: Laboratoire de Biochimie Génétique et INSERM U 841 eq 11, Hôpital Henri Mondor, Créteil, France. serge.pissard@im3.inserm.fr
authors: Serge
authors: S
authors: Pissard
authors: Mariane
authors: M
authors: de Montalembert
authors: Dora
authors: D
authors: Bachir
authors: Isabelle
authors: I
authors: Max-Audit
authors: Michel
authors: M
authors: Goossens
authors: Henri
authors: H
authors: Wajcman
authors: Brigitte
authors: B
authors: Bader-Meunier
mesh_terms: D000740:Anemia / Q000209:etiology; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D009154:Mutation / Q000235:genetics; D015997:Neonatal Screening / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D011770:Pyruvate Kinase / Q000172:deficiency*; D016896:Treatment Outcome
chemical_list: D011770:Pyruvate Kinase