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

Paediatric Liver Service and Institute of Liver Studies, King's College Hospital, London SE5 9RS, United Kingdom.
World Journal of Gastroenterology (Impact Factor: 2.43). 07/2012; 18(25):3322-6. DOI: 10.3748/wjg.v18.i25.3322
Source: PubMed

ABSTRACT 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.


Available from: Peter T Clayton, Jun 02, 2015
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