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.

Hypercholesterolemia

An increased concentration of cholesterol in the blood.

Total: 1

(per page)

PMID (PMCID)
3912072	MIXED_SAMPLE	Infant
	[Liver transplantation in children].
	Otte JB, de Hemptine B, Moulin D, Veyckemans F, Carlier MA, Buts JP, Claus D, Reynaert M, de Ville de Goyet J, Rahier J, et al.. Chir Pediatr. 1985;26(5):261-73.
	b) the metabolic diseases resulting either in cirrhosis with liver failure (alpha-1-antitrypsin deficiency, Wilson disease, glycogen storage disease type I and IV, protoporphyria) or in extrahepatic complications of enzymatic deficiency of an otherwise normally functioning liver (Crigler-Najjar syndrome type I, familial hypercholesterolemia and perhaps oxalosis).