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Summary
CRIGLER-NAJJAR SYNDROME TYPE II
HYPERBILIRUBINEMIA I HYPERBILIRUBINEMIA, UNCONJUGATED CN2
606785
OMIM = Online Medalian Inheritance of Men
79235
2q37
  • phenobarbital
  • phototherapy
rare
autosomal dominant
marked variability of penetrance, incomplete deficiency of hepatic UGT1A1 activity, clinically difficult to distinguish from Gilberts syndrome
symptoms
jaundice
kernicterus
onset, childhood
onset, neonatal
stool color
laboratory finding
Bilirubin6.0022.003.4017.00mg/dlserum
UDP-glucuronyltransferase decreased activityliver
Bilirubin, unconjugated0.000.00 increasedserumnewborn
Literature
Gloerich Jet al.A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiencyJ Lipid Res443640-6442003
Feldmann Jet al.Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)Cell1154461-4732003
Ferdinandusse Set al.Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional proteinAm J Hum Genet7061589-15932002
Endo Fet al.Animal models reveal pathophysiologies of tyrosinemiasJ Nutr Suppl13362063-67S2003
Ferdinandusse Set al.Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiencyMol Genet Metab794281-2872003
Ferdinandusse Set al.Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional proteinAm J Hum Genet7061589-15932002
Kapelari Ket al.Loss of intrahepatic bile ducts: an important feature of familial hemophagocytic lymphohistiocytosisVirchows Arch4466619-6252005
Kostler EWollina UTherapy of porphyria cutanea tardaExpert Opin Pharmacother63377-3832005
Alexander WSProgressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infantBrain720373-3811949