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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Lucey-Driscoll syndrome


Other Names for this Disease

  • Transient familial hyperbilirubinemia
  • Transient familial neonatal hyperbilirubinemia
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Cause

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What causes Lucey-Driscoll syndrome?

Lucey-Driscoll syndrome is caused by high levels of a bilirubin "conjugating enzyme inhibitor” which is a substance that limits the ability of bilirubin to bind to an enzyme.[1] When bilirubin does not bind efficiently, it builds up in the bloodstream. This inhibitor is thought to occur in the blood (serum) of pregnant women, and it likely blocks the enzyme activity necessary for the development of the fetal liver.[2]  Familial cases may result from the pregnant woman having a mutation in the uridine diphosphate-glucuronosyltransferase gene(UGT1A1).[3]
Last updated: 11/16/2010

References
  1. W.B. Saunders. Hyperbilirubinemia in Term and Near-Term Infants: Etiologies of Hyperbilirubinemia. Medscape. 2004; http://www.medscape.com/viewarticle/497028_3. Accessed 11/8/2010.
  2. Irwin M. Arias, Sonia Wolfson, Jerold F. Lucey, and R. James McKay, Jr.. Transient Familial Neonatal Hyperbilirubinemia. Journal of Clinical Investigation. September 1965; 44(9):1442-1450.
  3. Victor A. McKusick, Deborah L. Stone. HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL. OMIM. April 25, 2002; http://www.ncbi.nlm.nih.gov/omim/237900. Accessed 11/8/2010.


Other Names for this Disease
  • Transient familial hyperbilirubinemia
  • Transient familial neonatal hyperbilirubinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.