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
Related Documents :
9149959 - Effects of fatty acids and hormones on fatty acid metabolism and gluconeogenesis in bov...
22475509 - Biosynthesis of caffeic acid in escherichia coli using its endogenous hydroxylase complex.
19696439 - Demonstrated and inferred metabolism associated with cytosolic lipid droplets.
2165389 - Influence of chain length of pyrene fatty acids on their uptake and metabolism by epste...
12683809 - Rhodopsin exhibits a preference for solvation by polyunsaturated docosohexaenoic acid.
1193539 - Drug-induced foam cell reactions in rats, ii. chemical analysis of lipids stored in lun...
7104469 - Obligatory amino acids in primitive proteins.
14621139 - Boletus manicus heim.
2462599 - Regulatory role of retinoic acid on cultured mouse keratinocyte inositol phospholipid m...
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
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
Comments/Corrections

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


Previous Document:  Lymphogranuloma venereum proctosigmoiditis is a mimicker of inflammatory bowel disease.
Next Document:  Giant choledocholithiasis treated by mechanical lithotripsy using a gastric bezoar basket.