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

World J Gastroenterol. 2012 Jul 7;18(25):3322-6. doi: 10.3748/wjg.v18.i25.3322.


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.

Keywords: Amidation; Amino acid N-acyltransferase; Bile acid-CoA; Cholate-CoA ligase; Cholestasis; Conjugation; Electrospray ionisation-mass spectroscopy; Immunohistochemistry; Liver; Neonatal hepatitis; SLC27A5; Transmission electron microscopy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyltransferases / deficiency*
  • Acyltransferases / 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
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / drug therapy
  • Metabolism, Inborn Errors / enzymology
  • Mutation
  • Phenotype
  • Predictive Value of Tests


  • Fatty Acid Transport Proteins
  • SLC27A5 protein, human
  • Acyltransferases
  • bile acid-CoA amino acid N-acyltransferase
  • Coenzyme A Ligases
  • choloyl-CoA synthetase