首页|Diagnosis in bile acid-CoA: Amino acid N-acyltransferase deficiency

Diagnosis in bile acid-CoA: Amino acid N-acyltransferase deficiency

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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 bileacid amidation defects.

AmidationBile acid-CoAAmino acid N-acyltransferaseCholate-CoA ligaseCholestasisConjugationElectrospray ionisation-mass spectroscopyImmunohistochemistryLiverNeonatal hepatitisSLC27A5Transmission electron microscopy

Nedim Had(z)i(c)、Laura N Bull、Peter T Clayton、AS Knisely

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Paediatric Liver Service and Institute of Liver Studies, King's College Hospital, London SE5 9RS, United Kingdom

Liver Center Laboratory, University of California San Francisco, San Francisco, CA 94110, United States

Biochemistry Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1 N1EH, United Kingdom

Institute of Liver Studies, King's College Hospital, London SE5 9RS, United Kingdom

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Great Ormond Street Hospital Children's Charity,to Clayton PTNational Institutes of Health

R01 DK58214

2012

10.3748/wjg.v18.i25.3322

世界胃肠病学杂志(英文版)
太原消化病研治中心

世界胃肠病学杂志(英文版)

SCI
影响因子：1.001
ISSN：1007-9327
年,卷(期)：2012.18(25)
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