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Summary

Disease	CRIGLER-NAJJAR SYNDROME TYPE II
Synonym	HYPERBILIRUBINEMIA I HYPERBILIRUBINEMIA, UNCONJUGATED CN2
OMIM	606785 OMIM = Online Medalian Inheritance of Men
Orphanet	79235
Gene locus	2q37
Treatment	phenobarbital phototherapy
Summary	rare autosomal recessive mutation in the UDP-glucuronosyltransferase gene marked variability of penetrance, incomplete deficiency of hepatic UGT1A1 activity, clinically difficult to distinguish from Gilberts syndrome

symptoms

cholecystitis

jaundice

kernicterus

onset, childhood

onset, neonatal

stool color

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
Bilirubin	6.00	22.00	3.40	17.00	mg/dl	serum
UDP-glucuronyltransferase					decreased activity	liver
Bilirubin, unconjugated	0.00	0.00			increased	serum	newborn

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Fingerhut R,	et al.	Manifestation einer Glutarazidurie Typ I (GA-I) bei einem Kind mit falsch negativem Neugeborenen-Screening	31- Jahrestagung APS Fulda 2017		0	0		2017
Gloerich J	et al.	A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency	J Lipid Res		44	3	640-644	2003
Feldmann J	et al.	Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)	Cell		115	4	461-473	2003
Roizen JD,	Bradfield JP, Hakonarson H	Progress in understanding type 1 diabetes through its genetic overlap with other autoimmune diseases	Curr Diab Rep		15	11	102	2015
Ferdinandusse S	et al.	Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein	Am J Hum Genet		70	6	1589-1593	2002
Endo F	et al.	Animal models reveal pathophysiologies of tyrosinemias	J Nutr Suppl		133	6	2063-67S	2003
Ferdinandusse S	et al.	Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency	Mol Genet Metab		79	4	281-287	2003
Ferdinandusse S	et al.	Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein	Am J Hum Genet		70	6	1589-1593	2002
Kapelari K	et al.	Loss of intrahepatic bile ducts: an important feature of familial hemophagocytic lymphohistiocytosis	Virchows Arch		446	6	619-625	2005
Kostler E	Wollina U	Therapy of porphyria cutanea tarda	Expert Opin Pharmacother		6	3	377-383	2005
Alexander WS		Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant	Brain		72	0	373-381	1949