Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.
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.
Paediatric Liver Service and Institute of Liver Studies, King's College Hospital, London SE5 9RS, United Kingdom.
Nedim
N
Hadžić
Laura N
LN
Bull
Peter T
PT
Clayton
A S
AS
Knisely
D000217:Acyltransferases / Q000172:deficiency* / Q000235:genetics; D001706:Biopsy; D002648:Child; D003066:Coenzyme A Ligases / Q000032:analysis; D004252:DNA Mutational Analysis; D050612:Fatty Acid Transport Proteins / Q000032:analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007565:Jaundice / Q000209:etiology; D008099:Liver / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests
D050612:Fatty Acid Transport Proteins; C484819:SLC27A5 protein, human; D000217:Acyltransferases; C026953:bile acid-CoA amino acid N-acyltransferase; D003066:Coenzyme A Ligases; C019890:choloyl-CoA synthetase