| Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency. | |
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MedLine Citation:
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PMID: 22783059 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cholate-CoA ligase (CCL) and bile acid-CoA: amino acid N-acyltransferase (BAAT) sequentially mediate bile-acid amidation. Defects can cause intrahepatic cholestasis. Distinction has required gene sequencing. We assessed potential clinical utility of immunostaining of liver for CCL and BAAT. Using commercially available antibodies against BAAT and CCL, we immunostained liver from an infant with jaundice, deficiency of amidated bile acids, and transcription-terminating mutation in BAAT. CCL was normally expressed. BAAT expression was not detected. Immunostaining may facilitate diagnosis in bile-acid amidation defects. |
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Authors:
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Nedim Hadžić; Laura N Bull; Peter T Clayton; A S Knisely |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: World journal of gastroenterology : WJG Volume: 18 ISSN: 1007-9327 ISO Abbreviation: World J. Gastroenterol. Publication Date: 2012 Jul |
Date Detail:
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Created Date: 2012-07-11 Completed Date: 2012-11-21 Revised Date: 2013-05-30 |
Medline Journal Info:
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Nlm Unique ID: 100883448 Medline TA: World J Gastroenterol Country: China |
Other Details:
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Languages: eng Pagination: 3322-6 Citation Subset: IM |
Affiliation:
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Paediatric Liver Service and Institute of Liver Studies, King's College Hospital, London SE5 9RS, United Kingdom. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acyltransferases
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deficiency*,
genetics Biopsy Child Coenzyme A Ligases / analysis DNA Mutational Analysis Fatty Acid Transport Proteins / analysis Female Genetic Predisposition to Disease Humans Immunohistochemistry Infant Jaundice / etiology Liver / enzymology* Metabolism, Inborn Errors / complications, diagnosis*, drug therapy, enzymology Mutation Phenotype Predictive Value of Tests |
| Chemical | |
Reg. No./Substance:
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0/Fatty Acid Transport Proteins; 0/SLC27A5 protein, human; EC 2.3.-/Acyltransferases; EC 2.3.1.-/bile acid-CoA amino acid N-acyltransferase; EC 6.2.1.-/Coenzyme A Ligases; EC 6.2.1.7/choloyl-CoA synthetase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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