Crigler Najjar Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Crigler Najjar Syndrome is not the name you expected.
Crigler-Najjar syndrome is a rare genetic disorder characterized by an inability to properly convert and clear bilirubin from the body. Bilirubin is an orange-yellow bile pigment that is mainly a byproduct of the natural breakdown (degeneration) of old or worn out red blood cells (hemolysis). Normally, bilirubin created in this process is converted from an unconjugated form to a form that can be dissolved in water and excreted from the body (called conjugated bilirubin). Affected individuals cannot convert unconjugated bilirubin to the conjugated form because they lack a specific liver enzyme required to break down (metabolize) bilirubin. Since they cannot convert bilirubin, they develop abnormally high levels of unconjugated bilirubin in the blood (hyperbilirubinemia).
The hallmark finding of Crigler-Najjar syndrome is a 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, even life-threatening symptoms; and Crigler-Najjar syndrome type II, characterized by partial enzyme activity and milder symptoms. Both forms are inherited as autosomal recessive traits and are caused by errors or disruptions (mutations) of the UGT1A1 gene.
Crigler-Najjar syndrome was first recognized in six infants of three couples who were blood relatives (consanguineous). These cases were reported in the medical literature in 1952 by Drs. Crigler and Najjar. In 1962, Dr. Arias reported a milder version of this disorder, which is now termed Crigler-Najjar syndrome type II.
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Last Updated: 8/2/2016
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