Abstract
Classic galactosemia results from mutations in the galactose-1-phosphate uridyl transferase gene and causes infants to present with jaundice after initiation of lactose containing formulas. Jaundice associated with galactosemia is often thought to have a prominent direct fraction. We report an infant with galactosemia who presented with severe jaundice from indirect hyperbilirubinemia and met criteria for an exchange transfusion within 48 h after milk ingestion.
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Woo, H., Phornphutkul, C. & Laptook, A. Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia. J Perinatol 30, 295–297 (2010). https://doi.org/10.1038/jp.2009.136
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DOI: https://doi.org/10.1038/jp.2009.136
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