Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.
World J Gastroenterol
; 18(25): 3322-6, 2012 Jul 07.
Article
em En
| MEDLINE
| ID: mdl-22783059
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aciltransferases
/
Fígado
/
Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Child
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Female
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Humans
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Infant
Idioma:
En
Revista:
World J Gastroenterol
Ano de publicação:
2012
Tipo de documento:
Article