Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis.
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.
Pissard
Serge
S
Laboratoire de Biochimie Génétique et INSERM U 841 eq 11, Hôpital Henri Mondor, Créteil, France. serge.pissard@im3.inserm.fr
de Montalembert
Mariane
M
Bachir
Dora
D
Max-Audit
Isabelle
I
Goossens
Michel
M
Wajcman
Henri
H
Bader-Meunier
Brigitte
B
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
D011770:Pyruvate Kinase