Document Detail


Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.
MedLine Citation:
PMID:  22783059     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Nedim Hadžić; Laura N Bull; Peter T Clayton; A S Knisely
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  World journal of gastroenterology : WJG     Volume:  18     ISSN:  2219-2840     ISO Abbreviation:  World J. Gastroenterol.     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-07-11     Completed Date:  2012-11-21     Revised Date:  2014-05-20    
Medline Journal Info:
Nlm Unique ID:  100883448     Medline TA:  World J Gastroenterol     Country:  China    
Other Details:
Languages:  eng     Pagination:  3322-6     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Acyltransferases / 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:
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
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