학술논문
Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia
Document Type
Academic Journal
Author
Source
Journal of Perinatology. Apr 01, 2010 30(4):295-297
Subject
Language
English
ISSN
0743-8346
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.