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Summary
CRIGLER-NAJJAR SYNDROME TYPE I
CRIGLER-NAJJAR SYNDROME UDP-GLUCURONOSYLTRANSFERASE, SEVERE DEFICIENCY TYPE I CN1
218800
OMIM = Online Medalian Inheritance of Men
79234
2q37.1
  • avoidance of specific drugs
  • cholestyramine
  • exchange transfusion
  • liver transplantation
  • phototherapy
  • supportive/symptomatic therapy
very rare (0.6-1.0 per million live births)
autosomal recessive
mutation in the UDP-glycuronosyltransferase gene
severe unconjugated hyperbilirubinemia develops during the first 3 days of life, absence of hepatic bilirubin-uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) activity
symptoms
cirrhosis or fibrosis of liver
early death
encephalopathy
jaundice
kernicterus
onset, neonatal
stool color
laboratory finding
Bilirubin17.0050.0010.00200.00mg/dlserum
UDP-glucuronyltransferase undetectable activityliver
Bilirubin 10.0050.00100.00mg/dlbile
Bilirubin, unconjugated0.000.00 increasedserumnewborn
Literature
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Gloerich Jet al.A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiencyJ Lipid Res443640-6442003
Medina C,et al.Screening for red blood cell sorbitol dehydrogenase deficiency in patients with diabetes or cataractsOphthalmic Paediatr Genet83197-2021987
Feldmann Jet al.Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)Cell1154461-4732003
Badminton MNElder GHMolecular mechanisms of dominant expression in porphyriaJ Inherit Metab Dis283277-2862005
Vaca G,et al.Red blood cell sorbitol dehydrogenase deficiency in a family with cataractsHum Genet614338-3411982
Okamoto Y,Tanaka SSorbitol dehydrogenase (SDH)Nihon Rinsho Suppl620827-8292004
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
Ii S,et al.Redox state-dependent and sorbitol accumulation-independent diabetic albuminuria in mice with transgene-derived human aldose reductase and sorbitol dehydrogenase deficiencyDiabetologia473541-5482004
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