Supplementary Material for: A Previously Unknown Mutation in the Pyruvate Kinase Gene <b><i>(PKLR)</i></b> Identified from a Neonate with Severe Jaundice

We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (&lt;2 U/g hemoglobin, reference interval 9-22). We found her asymptomatic mother to be heterozygous for a novel <i>PKLR </i>mutation (c.1573delT) with an erythrocyte PK activity of 6.2 U/g hemoglobin. Her asymptomatic father was heterozygous for the common Northern European <i>PKLR</i> 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.