Document Detail

Disorders of bile acid synthesis.
MedLine Citation:
PMID:  21229319     Owner:  NLM     Status:  Publisher    
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.
Peter Theodore Clayton
Related Documents :
3132609 - Role of arachidonic acid metabolism in the mitogenic response of balb/c 3t3 fibroblasts...
2845839 - Arachidonic acid metabolites produced by bovine alveolar macrophages.
17975109 - Hydrogen peroxide inhibits cytochrome p450 epoxygenases: interaction between two endoth...
7999109 - Iminodipeptides containing proline with c-terminal and n-terminal residues prime the st...
25482299 - Non-toxic agarose/gelatin-based microencapsulation system containing gallic acid for an...
2838089 - Synthesis and metabolism of leukotrienes by human endothelial cells: influence on prost...
16556109 - Strong ion calculator--a practical bedside application of modern quantitative acid-base...
2498379 - Characterization of the binding of thyroxine to high density lipoproteins and apolipopr...
6225459 - Oxidation of reactive sulfhydryl groups of sarcoplasmic reticulum atpase.
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:  -    
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,
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Neonatal cholestasis: an uncommon presentation of hyperargininemia.
Next Document:  Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors...