Document Detail

Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias.
MedLine Citation:
PMID:  9435989     Owner:  NLM     Status:  MEDLINE    
Congenital familial non-haemolytic hyperbilirubinaemias are potentially lethal syndromes caused by genetic lesions that reduce or abolish hepatic bilirubin UDP-glucuronosyltransferase activity. Here we describe genetic defects that occur in the UGT1 gene complex that cause three non-haemolytic unconjugated hyperbilirubinaemia syndromes. The most severe syndrome, termed Crigler-Najjar syndrome type I, is mainly associated with mutations in exons 2 to 5 that affect all UGT1 enzymes and many of the mutations result in termination codons and frameshifts. Crigler-Najjar type II syndrome which is treatable with phenobarbital therapy is associated with less dramatic missense mutations or heterozygous expression of mutant and normal alleles. Gilbert's syndrome, the most prevalent (2-19% in population studies) and mildest of the three syndromes is principally caused by a TA insertion at the TATA promoter region upstream of the UGT1A1 exon. Current methods used for the diagnosis and treatment of these diseases are discussed.
D J Clarke; N Moghrabi; G Monaghan; A Cassidy; M Boxer; R Hume; B Burchell
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinica chimica acta; international journal of clinical chemistry     Volume:  266     ISSN:  0009-8981     ISO Abbreviation:  Clin. Chim. Acta     Publication Date:  1997 Oct 
Date Detail:
Created Date:  1998-02-04     Completed Date:  1998-02-04     Revised Date:  2010-08-25    
Medline Journal Info:
Nlm Unique ID:  1302422     Medline TA:  Clin Chim Acta     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  63-74     Citation Subset:  IM    
Department of Molecular and Cellular Pathology, University of Dundee, Ninewells Medical School, Scotland, UK.
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MeSH Terms
Crigler-Najjar Syndrome / enzymology*,  genetics,  therapy
Genetic Variation
Gilbert Disease / enzymology*,  genetics,  therapy
Glucuronosyltransferase / genetics*
Grant Support
//Wellcome Trust
Reg. No./Substance:

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