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

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 3α,7α,12α-trihydroxy-5β-cholestanoic acid (THCA). We aimed to investigate the...

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Detalles Bibliográficos
Autores: Alonso-Peña, Marta|||0000-0003-0934-2202, Espinosa-Escudero, Ricardo, Herraez, Elisa, Briz, Oscar, Cagigal, Maria Luisa, González Santiago, Jesús M.|||0000-0003-4667-4492, Ortega-Alonso, Aida|||0000-0002-8999-4093, Fernandez-Rodriguez, Conrado, Bujanda, Luis|||0000-0002-4353-9968, Calvo Sanchez, Marta, D'Avola, Delia, Londoño, Maria Carlota|||0000-0002-6533-1586, Diago, Moises|||0000-0002-8583-2433, Fernandez-Checa, Jose C., Garcia-Ruiz, Carmen, Andrade, Raúl J., Lammert, Frank, Prieto, Jesus, Crespo García, Javier|||0000-0001-8248-0172, Juamperez, Javier|||0000-0002-8556-6374, Díaz-González, Álvaro|||0000-0003-3610-2263, Monte, Maria J.|||0000-0003-1844-7428, Marin, Jose J. G.|||0000-0003-1186-6849
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:270754
Acceso en línea:https://ddd.uab.cat/record/270754
https://dx.doi.org/urn:doi:10.1002/hep.32517
Access Level:acceso abierto
Descripción
Sumario: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 3α,7α,12α-trihydroxy-5β-cholestanoic acid (THCA). We aimed 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. Among 33 patients with unexplained hypertransaminasemia from 11 hospitals and 13 of their relatives, seven individuals with abnormally high C27-BA levels (.

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