Marta Alonso-Peña, Ricardo Espinosa-Escudero, Elisa Herraez, Oscar Briz, Maria Luisa Cagigal, Jesus M Gonzalez-Santiago, Aida Ortega-Alonso, Conrado Fernandez Rodriguez, Luis Bujanda, Marta Calvo Sanchez, Delia D Avola, Maria-Carlota Londoño, Moises Diago, Jose C Fernandez-Checa, Carmen Garcia-Ruiz, Raul J Andrade, Frank Lammert, Jesus Prieto, Javier Crespo, Javier Juamperez, Alvaro Diaz-Gonzalez, Maria J Monte, Jose J G Marin
BACKGROUND: A variant (p.Arg225Trp) of peroxisomal acyl-CoA oxidase 2 (ACOX2), involved in bile acid (BA) side-chain shortening, has been associated with unexplained persistent hypertransaminasemia and accumulation of C27-BAs, mainly trihydroxycholestanoic acid (THCA). AIMS: To investigate the prevalence of ACOX2 deficiency-associated hypertransaminasemia (ADAH), its response to ursodeoxycholic acid (UDCA), elucidate its pathophysiological mechanism and identify other inborn errors that could cause this alteration...
April 8, 2022: Hepatology: Official Journal of the American Association for the Study of Liver Diseases