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Crigler-Najjar syndrome

Pronunciation: krig'ler nah'jahr

Definition: a rare defect in ability to form bilirubin glucuronide due to deficiency of bilirubin-glucuronide glucuronosyltransferase; characterized by familial nonhemolytic jaundice and, in its severe form, by irreversible brain damage in infancy that resembles kernicterus and may be fatal; autosomal recessive inheritance, caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (UGT1) on chromosome 1q. There is an autosomal dominant form called Gilbert syndrome, also caused by mutation in the UGT1 gene.

Synonym(s): Crigler-Najjar disease

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.