title: Pyruvate kinase deficiency as a cause of extreme hyperbilirubinemia in neonates from a polygamist community.
abstract: Neonatal hemolytic jaundice is a risk factor for kernicterus. Pyruvate kinase (PK) deficiency is a rare cause of neonatal hemolytic jaundice, with a prevalence estimated at 1 case per 20,000 births in the United States, but with a higher prevalence among the Amish communities in Pennsylvania and Ohio. We discovered four neonates with PK deficiency born in a small community of polygamists. All four had early, severe, hemolytic jaundice. PK deficiency should be considered in neonates with early hemolytic, Coombs-negative, non-spherocytic jaundice, particularly in communities with considerable consanguinity. Such cases should be recognized early and managed aggressively to prevent kernicterus.
authors.affiliation: Division of Neonatology, Intermountain Healthcare, Salt Lake City, UT 84403, USA. rdchris@ihc.com
authors.forename: R D
authors.initials: RD
authors.lastname: Christensen
authors.forename: L D
authors.initials: LD
authors.lastname: Eggert
authors.forename: V L
authors.initials: VL
authors.lastname: Baer
authors.forename: K N
authors.initials: KN
authors.lastname: Smith
mesh_terms: D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications* / Q000201:enzymology* / Q000453:epidemiology; D002835:Christianity; D003241:Consanguinity; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000453:epidemiology / Q000209:etiology*; D008393:Marriage; D011770:Pyruvate Kinase / Q000172:deficiency*; D014589:Utah / Q000453:epidemiology
chemical_list: D011770:Pyruvate Kinase