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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia

Journal of Perinatology volume 30, pages 295–297 (2010)Cite this article

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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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Authors and Affiliations

  1. Department of Pediatrics, Women and Infants Hospital of Rhode Island, Providence, RI, USA

    H C Woo & A R Laptook

  2. The Warren Alpert Medical School of Brown University, Providence, RI, USA

    H C Woo, C Phornphutkul & A R Laptook

  3. Hasbro Children's Hospital – The Pediatric Division of Rhode Island Hospital, Providence, RI, USA

    C Phornphutkul

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  1. H C Woo
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  2. C Phornphutkul
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  3. A R Laptook
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Correspondence to H C Woo.

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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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