title: Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn.
abstract: Significant hyperbilirubinaemia, anemia, and splenomegaly are common features in patients with severe haemolysis due to pyruvate kinase (PK) deficiency. Until now, severe neonatal PK deficiency has not been associated with fatal liver disease at this age. We present two neonatal cases of severe PK deficiency complicated with progressive fatal liver disease. The patients presented with severe haemolysis, progressive cholestasis, and hepatosplenomegaly, and both patients ultimately developed liver failure at a very young age. Despite extensive investigations, no specific explanation for liver disease and failure was found. We suggest that the PK deficiency itself directly led to liver dysfunction.
authors.affiliation: Department of Paediatric Haematology and Oncology, Wilhelmina Children's Hospital, University Medical Center of Utrecht, The Netherlands. m.f.raphael@umcutrecht.nl
authors.forename: Martine F
authors.initials: MF
authors.lastname: Raphaël
authors.forename: Richard
authors.initials: R
authors.lastname: Van Wijk
authors.forename: Joachim J
authors.initials: JJ
authors.lastname: Schweizer
authors.forename: Netteke A Y
authors.initials: NA
authors.lastname: Schouten-van Meeteren
authors.forename: Angelika
authors.initials: A
authors.lastname: Kindermann
authors.forename: Wouter W
authors.initials: WW
authors.lastname: van Solinge
authors.forename: Frans J
authors.initials: FJ
authors.lastname: Smiers
mesh_terms: D000743:Anemia, Hemolytic / Q000150:complications / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000209:etiology*; D008099:Liver / Q000473:pathology; D017093:Liver Failure / Q000209:etiology; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics
chemical_list: D011770:Pyruvate Kinase