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- Title
A Previously Unknown Mutation in the Pyruvate Kinase Gene (PKLR) Identified from a Neonate with Severe Jaundice.
- Authors
Yaish, Hassan M.; Nussenzveig, Roberto H.; agarwal, archana M.; Siddiqui, abdul H.; Christensen, Robert D.
- Abstract
We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (<2 U/g hemoglobin, reference interval 9-22). We found her asymptomatic mother to be heterozygous for a novel PKLR mutation (c.1573delT) with an erythrocyte PK activity of 6.2 U/g hemoglobin. Her asymptomatic father was heterozygous for the common Northern European PKLR mutation (c.1529A) with an erythrocyte PK activity of 3.6 U/g. The neonate was a compound heterozygote with both mutations, but with no other mutations identified by sequencing a panel of 27 genes involved in severe neonatal jaundice. © 2014 S. Karger AG, Basel
- Subjects
JAUNDICE; HEMOLYSIS &; hemolysins; PYRUVATE kinase; BILIRUBIN; NEWBORN infants
- Publication
Neonatology (16617800), 2014, Vol 106, Issue 2, p140
- ISSN
1661-7800
- Publication type
Article
- DOI
10.1159/000363219