Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia.
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.
Woo
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HC
Department of Pediatrics, Women and Infants Hospital of Rhode Island, The Warren Alpert Medical School of Brown University, Providence, RI 02905, USA. dwoo@wihri.org
Phornphutkul
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C
Laptook
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AR
D000293:Adolescent; D005078:Exchange Transfusion, Whole Blood; D005260:Female; D005693:Galactosemias / Q000150:complications* / Q000175:diagnosis* / Q000178:diet therapy; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000150:complications* / Q000628:therapy; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D041942:Soy Milk