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Disorders of bile acid synthesis.
MedLine Citation:
PMID:  21229319     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Inborn errors of bile acid synthesis can produce life-threatening cholestatic liver disease (which usually presents in infancy) and progressive neurological disease presenting later in childhood or in adult life. Both types of disease can often be treated very effectively with bile acid replacement therapy and it is therefore important to diagnose these disorders as early as possible. The cholestatic disease in infancy is characterised by conjugated hyperbilirubinaemia with raised transaminases but normal γ-glutamyl transpeptidase and a biopsy showing a giant cell hepatitis. There is usually evidence of fat-soluble vitamin malabsorption. The neurological presentation often includes signs of upper motor neurone damage (spastic paraparesis). The most useful screening test for many of these disorders is analysis of urinary cholanoids (bile acids and bile alcohols); this is usually now achieved by electrospray ionisation tandem mass spectrometry. The disorders that are discussed in this review are: 3β-hydroxysteroid-Δ5-C27-steroid dehydrogenase deficiency, Δ4-3-oxosteroid 5β-reductase deficiency, sterol 27-hydroxylase deficiency (cerberotendinous xanthomatosis, CTX), oxysterol 7α-hydroxylase deficiency (including one form of hereditary spastic paraparesis) and the amidation defects, bile acid-CoA: aminoacid N-acyltransferase (BAAT) deficiency and bile acid-CoA ligase deficiency. The disorders of peroxisome biogenesis and peroxisomal β-oxidation that affect bile acid synthesis will be covered in the review by Ferdinandusse et al.
Authors:
Peter Theodore Clayton
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-1-13
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  -     ISSN:  1573-2665     ISO Abbreviation:  -     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-1-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Biochemistry Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health (and Great Ormond Street Hospital for Children), 30 Guilford Street, London, WC1N 1EH, UK, p.clayton@ich.ucl.ac.uk.
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