Crigler-Najjar syndrome

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.

Hyperbilirubinemia

An increased amount of bilirubin in the blood.

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PMID (PMCID)
24341141	FEMALE	Infant, Newborn
	Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect.
	Yildiz D, Alan S, Kilic A, Yaman A, Erdeve O, Kuloglu Z, Atasay B, Arsan S. Genet Couns. 2013;24(3):273-7.
	Crigler-Najjar syndrome (CNS), caused by deficiency of bilirubin uridine diphosphate glucuronosyltransferase (UGT) 1A1, is a rare and autosomal recessive inherited disorder characterized by severe unconjugated nonhemolytic hyperbilirubinemia since birth.
22169899	MIXED_SAMPLE	Child
	A homozygous mutation in UGT1A1 exon 5 may be responsible for persistent hyperbilirubinemia in a Japanese girl with Gilbert's syndrome.
	Nakagawa T, Mure T, Yusoff S, Ono E, Kusuma Harahap IS, Morikawa S, Morioka I, Takeshima Y, Nishio H, Matsuo M. Kobe J Med Sci. 2011;57(1):E26-31.
	Many mutations have already been identified in patients with inherited disorders with hyperbilirubinemia, Crigler-Najjar syndrome and Gilbert's syndrome.
16211719	MIXED_SAMPLE	Infant, Newborn
	Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II.
	Holstein A, Plaschke A, Lohse P, Egberts EH. Scand J Gastroenterol. 2005;40(9):1124-6.
	Severe hyperbilirubinemia in a pregnant mother suffering from Crigler-Najjar syndrome type II is a threat to the unborn child and may result in brain injury.