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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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Overview



What is Lucey-Driscoll syndrome?

What causes Lucey-Driscoll syndrome?


What is Lucey-Driscoll syndrome?

Lucey-Driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. Babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. It occurs when the body does not properly break down (metabolize) a certain form of bilirubin.  If untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. Treatment for Lucey-Driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary.[1] Different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition.
Last updated: 11/15/2010

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.[2] 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.[3]  Familial cases may result from the pregnant woman having a mutation in the uridine diphosphate-glucuronosyltransferase gene(UGT1A1).[4]
Last updated: 11/16/2010

References
  1. Diana Chambers, David Zieve. Transient familial hyperbilirubinemia. MedlinePlus. August 11, 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001196.htm. Accessed 11/8/2010.
  2. 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.
  3. 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.
  4. 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.