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Crigler Najjar Syndrome

Abstract

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Synonyms of Crigler Najjar Syndrome

  • Familial Nonhemolytic Unconjugated Hyperbilirubinemia
  • Hereditary Unconjugated Hyperbilirubinemia

Disorder Subdivisions

  • Bilirubin Glucuronosyltransferase Deficiency Type I
  • Congenital Familial Nonhemolytic Jaundice Type
  • Congenital Familial Nonhemolytic Jaundice Type I
  • Uridine Diphosphate Glucuronosyltransferase, Severe Def. Type I

General Discussion

Crigler-Najjar syndrome is a rare genetic disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is a yellowish waste product that is formed when the liver breaks down old or worn out red blood cells (hemolysis). Individuals with Crigler-Najjar syndrome develop hyperbilirubinemia in the absence of hemolysis. The elevated bilirubin levels occur because affected individuals lack a specific liver enzyme required to break down (metabolize) bilirubin. The hallmark finding of Crigler-Najjar syndrome is persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice). There are two forms of this disorder: Crigler-Najjar syndrome type I, characterized by a nearly complete lack of enzyme activity and severe symptoms; and Crigler-Najjar syndrome type II, characterized by partial enzyme activity and milder symptoms. Most cases of Crigler-Najjar syndrome are inherited as autosomal recessive traits and are due to errors or disruptions (mutations) of the UGT1 gene located on chromosome 2.

Crigler Najjar Syndrome Resources

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., jaundice, central nervous system damage, etc.].)

NORD Member Organizations:

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