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Perinatal/Neonatal Case Presentation

Pyruvate kinase deficiency as a cause of extreme hyperbilirubinemia in neonates from a polygamist community


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.

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We thank Bertil Glader, MD, PhD, Stanford University Medical Center, Palo Alto, California, for interpreting the erythrocyte pyruvate kinase values on these patients.

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Correspondence to R D Christensen.

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Christensen, R., Eggert, L., Baer, V. et al. Pyruvate kinase deficiency as a cause of extreme hyperbilirubinemia in neonates from a polygamist community. J Perinatol 30, 233–236 (2010).

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  • jaundice
  • neonate
  • anemia
  • hemolysis
  • PK deficiency

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