Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia.

Marta Alonso-PeñaRicardo Espinosa-EscuderoElisa HerraezOscar BrizMaria Luisa CagigalJesús M González-SantiagoAida Ortega-AlonsoConrado Fernandez-RodriguezLuis BujandaMarta Calvo SanchezDelia D AvolaMaría Carlota LondoñoMoises DiagoJose C Fernandez-ChecaCarmen Garcia-RuizRaul J AndradeFrank LammertJesus PrietoJavier CrespoJavier JuamperezAlvaro Diaz-GonzalezMaria J Monte Jose J G Marin

Published in: Hepatology (Baltimore, Md.) (2022)

Dysfunctional ACOX2 has been found in several patients with unexplained hypertransaminasemia. This condition can be accurately identified by a noninvasive diagnostic strategy based on plasma BA profiling and ACOX2 sequencing. Moreover, UDCA treatment can efficiently attenuate liver damage in these patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
single cell
peritoneal dialysis
oxidative stress
fatty acid
replacement therapy