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...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , |
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| 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 |
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Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemiaAlonso-Peña, Marta|||0000-0003-0934-2202Espinosa-Escudero, RicardoHerraez, ElisaBriz, OscarCagigal, Maria LuisaGonzález Santiago, Jesús M.|||0000-0003-4667-4492Ortega-Alonso, Aida|||0000-0002-8999-4093Fernandez-Rodriguez, ConradoBujanda, Luis|||0000-0002-4353-9968Calvo Sanchez, MartaD'Avola, DeliaLondoño, Maria Carlota|||0000-0002-6533-1586Diago, Moises|||0000-0002-8583-2433Fernandez-Checa, Jose C.Garcia-Ruiz, CarmenAndrade, Raúl J.Lammert, FrankPrieto, JesusCrespo García, Javier|||0000-0001-8248-0172Juamperez, Javier|||0000-0002-8556-6374Díaz-González, Álvaro|||0000-0003-3610-2263Monte, Maria J.|||0000-0003-1844-7428Marin, Jose J. G.|||0000-0003-1186-6849A 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 (.Universitat Autònoma de Barcelona 22022-01-0120222022-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/270754https://dx.doi.org/urn:doi:10.1002/hep.32517reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 EHD15PI05/2016Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/00819Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI20/00189open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2707542026-06-06T12:50:31Z |
| dc.title.none.fl_str_mv |
Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia |
| title |
Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia |
| spellingShingle |
Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia Alonso-Peña, Marta|||0000-0003-0934-2202 |
| title_short |
Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia |
| title_full |
Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia |
| title_fullStr |
Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia |
| title_full_unstemmed |
Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia |
| title_sort |
Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia |
| dc.creator.none.fl_str_mv |
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 |
| author |
Alonso-Peña, Marta|||0000-0003-0934-2202 |
| author_facet |
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 |
| author_role |
author |
| author2 |
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 |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Universitat Autònoma de Barcelona |
| description |
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 (. |
| publishDate |
2022 |
| dc.date.none.fl_str_mv |
2 2022-01-01 2022 2022-01-01 |
| dc.type.none.fl_str_mv |
Article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
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article |
| dc.identifier.none.fl_str_mv |
https://ddd.uab.cat/record/270754 https://dx.doi.org/urn:doi:10.1002/hep.32517 |
| url |
https://ddd.uab.cat/record/270754 https://dx.doi.org/urn:doi:10.1002/hep.32517 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.relation.none.fl_str_mv |
Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 EHD15PI05/2016 Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/00819 Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI20/00189 |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by-nc-nd/4.0/ |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by-nc-nd/4.0/ |
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openAccess |
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application/pdf |
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reponame:Dipòsit Digital de Documents de la UAB instname:Universitat Autònoma de Barcelona |
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Universitat Autònoma de Barcelona |
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Dipòsit Digital de Documents de la UAB |
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