Document Detail

Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia.
MedLine Citation:
PMID:  20351709     Owner:  NLM     Status:  MEDLINE    
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.
H C Woo; C Phornphutkul; A R Laptook
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of perinatology : official journal of the California Perinatal Association     Volume:  30     ISSN:  1476-5543     ISO Abbreviation:  J Perinatol     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-03-30     Completed Date:  2010-07-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8501884     Medline TA:  J Perinatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  295-7     Citation Subset:  IM    
Department of Pediatrics, Women and Infants Hospital of Rhode Island, The Warren Alpert Medical School of Brown University, Providence, RI 02905, USA.
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MeSH Terms
Exchange Transfusion, Whole Blood
Galactosemias / complications*,  diagnosis*,  diet therapy
Hyperbilirubinemia, Neonatal / complications*,  therapy
Infant, Newborn
Soy Milk

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