Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry
(This article belongs to the Special Issue Nutritional Treatment and Screening for Inherited Metabolic Diseases).
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2025 |
| País: | España |
| Institución: | Consejo Superior de Investigaciones Científicas (CSIC) |
| Repositorio: | DIGITAL.CSIC. Repositorio Institucional del CSIC |
| OAI Identifier: | oai:digital.csic.es:10261/385752 |
| Acceso en línea: | http://hdl.handle.net/10261/385752 |
| Access Level: | acceso abierto |
| Palabra clave: | Urea cycle disorders (UCDs) Arginase 1 (ARG1) Argininosuccinate lyase (ASL) Argininosuccinate synthetase (ASS1) Carbonic anhydrase VA (CA-VA) Citrin Carbamoylphosphate synthetase (CPS1) Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) N-acetylglutamate synthase (NAGS) Ornithine/citrulline antiporter (ORNT) Ornithine transcarbamylase (OTC) |
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ES_e4658e28cd63c029fda0f3c85e635821 |
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oai:digital.csic.es:10261/385752 |
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España |
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| dc.title.none.fl_str_mv |
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry |
| title |
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry |
| spellingShingle |
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry Martín-Hernández, Elena Urea cycle disorders (UCDs) Arginase 1 (ARG1) Argininosuccinate lyase (ASL) Argininosuccinate synthetase (ASS1) Carbonic anhydrase VA (CA-VA) Citrin Carbamoylphosphate synthetase (CPS1) Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) N-acetylglutamate synthase (NAGS) Ornithine/citrulline antiporter (ORNT) Ornithine transcarbamylase (OTC) |
| title_short |
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry |
| title_full |
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry |
| title_fullStr |
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry |
| title_full_unstemmed |
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry |
| title_sort |
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry |
| dc.creator.none.fl_str_mv |
Martín-Hernández, Elena Bellusci, Marcello Pérez-Mohand, Patricia Correcher Medina, Patricia Blasco-Alonso, Javier Morais-López, Ana de las Heras, Javier Meavilla Olivas, Silvia María Dougherty-de Miguel, Lucy Couce, María Luz Villarroya, Elvira Cañedo García Jiménez, María Concepción Moreno-Lozano, Pedro Juan Vives, Inmaculada Gil-Campos, Mercedes Stanescu, Sinziana Ceberio-Hualde, Leticia Camprodón, María Cortès-Saladelafont, Elisenda López-Urdiales, Rafael Murray Hurtado, Mercedes Márquez Armenteros, Ana María Sierra Córcoles, Concha Peña-Quintana, Luis Ruiz-Pons, Mónica Alcalde, Carlos Castellanos-Pinedo, Fernando Dios, Elena Barrio-Carreras, Delia Martín-Cazaña, María García-Peris, Mónica Andrade, José David García-Volpe, Camila de los Santos, Mariela García-Cazorla, Angels del Toro, Mireia Felipe-Rucián, Ana Comino Monroy, María José Sánchez-Pintos, Paula Matas, Ana Gil Ortega, David Martín-Rivada, Álvaro Bergua, Ana Belanger-Quintana, Amaya Vitoria, Isidro Yahyaoui, Raquel Pérez, Belén Morales-Conejo, Montserrat Quijada-Fraile, Pilar |
| author |
Martín-Hernández, Elena |
| author_facet |
Martín-Hernández, Elena Bellusci, Marcello Pérez-Mohand, Patricia Correcher Medina, Patricia Blasco-Alonso, Javier Morais-López, Ana de las Heras, Javier Meavilla Olivas, Silvia María Dougherty-de Miguel, Lucy Couce, María Luz Villarroya, Elvira Cañedo García Jiménez, María Concepción Moreno-Lozano, Pedro Juan Vives, Inmaculada Gil-Campos, Mercedes Stanescu, Sinziana Ceberio-Hualde, Leticia Camprodón, María Cortès-Saladelafont, Elisenda López-Urdiales, Rafael Murray Hurtado, Mercedes Márquez Armenteros, Ana María Sierra Córcoles, Concha Peña-Quintana, Luis Ruiz-Pons, Mónica Alcalde, Carlos Castellanos-Pinedo, Fernando Dios, Elena Barrio-Carreras, Delia Martín-Cazaña, María García-Peris, Mónica Andrade, José David García-Volpe, Camila de los Santos, Mariela García-Cazorla, Angels del Toro, Mireia Felipe-Rucián, Ana Comino Monroy, María José Sánchez-Pintos, Paula Matas, Ana Gil Ortega, David Martín-Rivada, Álvaro Bergua, Ana Belanger-Quintana, Amaya Vitoria, Isidro Yahyaoui, Raquel Pérez, Belén Morales-Conejo, Montserrat Quijada-Fraile, Pilar |
| author_role |
author |
| author2 |
Bellusci, Marcello Pérez-Mohand, Patricia Correcher Medina, Patricia Blasco-Alonso, Javier Morais-López, Ana de las Heras, Javier Meavilla Olivas, Silvia María Dougherty-de Miguel, Lucy Couce, María Luz Villarroya, Elvira Cañedo García Jiménez, María Concepción Moreno-Lozano, Pedro Juan Vives, Inmaculada Gil-Campos, Mercedes Stanescu, Sinziana Ceberio-Hualde, Leticia Camprodón, María Cortès-Saladelafont, Elisenda López-Urdiales, Rafael Murray Hurtado, Mercedes Márquez Armenteros, Ana María Sierra Córcoles, Concha Peña-Quintana, Luis Ruiz-Pons, Mónica Alcalde, Carlos Castellanos-Pinedo, Fernando Dios, Elena Barrio-Carreras, Delia Martín-Cazaña, María García-Peris, Mónica Andrade, José David García-Volpe, Camila de los Santos, Mariela García-Cazorla, Angels del Toro, Mireia Felipe-Rucián, Ana Comino Monroy, María José Sánchez-Pintos, Paula Matas, Ana Gil Ortega, David Martín-Rivada, Álvaro Bergua, Ana Belanger-Quintana, Amaya Vitoria, Isidro Yahyaoui, Raquel Pérez, Belén Morales-Conejo, Montserrat Quijada-Fraile, Pilar |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author 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 |
Lucane Pharma Immedica Pérez, Belén [0000-0002-3190-1958] |
| dc.subject.none.fl_str_mv |
Urea cycle disorders (UCDs) Arginase 1 (ARG1) Argininosuccinate lyase (ASL) Argininosuccinate synthetase (ASS1) Carbonic anhydrase VA (CA-VA) Citrin Carbamoylphosphate synthetase (CPS1) Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) N-acetylglutamate synthase (NAGS) Ornithine/citrulline antiporter (ORNT) Ornithine transcarbamylase (OTC) |
| topic |
Urea cycle disorders (UCDs) Arginase 1 (ARG1) Argininosuccinate lyase (ASL) Argininosuccinate synthetase (ASS1) Carbonic anhydrase VA (CA-VA) Citrin Carbamoylphosphate synthetase (CPS1) Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) N-acetylglutamate synthase (NAGS) Ornithine/citrulline antiporter (ORNT) Ornithine transcarbamylase (OTC) |
| description |
(This article belongs to the Special Issue Nutritional Treatment and Screening for Inherited Metabolic Diseases). |
| publishDate |
2025 |
| dc.date.none.fl_str_mv |
2025 2025 2025 2025 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 Publisher's version info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/10261/385752 |
| url |
http://hdl.handle.net/10261/385752 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.relation.none.fl_str_mv |
The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI https://doi.org/10.3390/nu17071173 https://doi.org/10.3390/nu17071173 No |
| dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
| dc.publisher.none.fl_str_mv |
Multidisciplinary Digital Publishing Institute |
| publisher.none.fl_str_mv |
Multidisciplinary Digital Publishing Institute |
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reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC instname:Consejo Superior de Investigaciones Científicas (CSIC) |
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Consejo Superior de Investigaciones Científicas (CSIC) |
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DIGITAL.CSIC. Repositorio Institucional del CSIC |
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DIGITAL.CSIC. Repositorio Institucional del CSIC |
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|
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1869422587266727936 |
| spelling |
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish RegistryMartín-Hernández, ElenaBellusci, MarcelloPérez-Mohand, PatriciaCorrecher Medina, PatriciaBlasco-Alonso, JavierMorais-López, Anade las Heras, JavierMeavilla Olivas, Silvia MaríaDougherty-de Miguel, LucyCouce, María LuzVillarroya, Elvira CañedoGarcía Jiménez, María ConcepciónMoreno-Lozano, Pedro JuanVives, InmaculadaGil-Campos, MercedesStanescu, SinzianaCeberio-Hualde, LeticiaCamprodón, MaríaCortès-Saladelafont, ElisendaLópez-Urdiales, RafaelMurray Hurtado, MercedesMárquez Armenteros, Ana MaríaSierra Córcoles, ConchaPeña-Quintana, LuisRuiz-Pons, MónicaAlcalde, CarlosCastellanos-Pinedo, FernandoDios, ElenaBarrio-Carreras, DeliaMartín-Cazaña, MaríaGarcía-Peris, MónicaAndrade, José DavidGarcía-Volpe, Camilade los Santos, MarielaGarcía-Cazorla, Angelsdel Toro, MireiaFelipe-Rucián, AnaComino Monroy, María JoséSánchez-Pintos, PaulaMatas, AnaGil Ortega, DavidMartín-Rivada, ÁlvaroBergua, AnaBelanger-Quintana, AmayaVitoria, IsidroYahyaoui, RaquelPérez, BelénMorales-Conejo, MontserratQuijada-Fraile, PilarUrea cycle disorders (UCDs)Arginase 1 (ARG1)Argininosuccinate lyase (ASL)Argininosuccinate synthetase (ASS1)Carbonic anhydrase VA (CA-VA)CitrinCarbamoylphosphate synthetase (CPS1)Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)N-acetylglutamate synthase (NAGS)Ornithine/citrulline antiporter (ORNT)Ornithine transcarbamylase (OTC)(This article belongs to the Special Issue Nutritional Treatment and Screening for Inherited Metabolic Diseases).<b>Background/Objectives</b>: The present study updates the Spanish registry of patients with urea cycle disorders (UCD), originally established in 2013, to provide comprehensive epidemiological data and evaluate the impact of therapeutic strategies and newborn screening (NBS) on clinical outcomes. <b>Methods</b>: This retrospective, multicenter study focuses on 255 Spanish UCD patients. It includes all living and deceased cases up to February 2024, analyzing demographic, clinical, and biochemical variables. <b>Results</b>: The incidence of UCD in Spain over the past decade was 1:36,063 births. The most common defects were ornithine transcarbamylase deficiency (OTCD) and argininosuccinate synthetase deficiency. Early-onset (EO) cases comprised 32.7%, and 10.6% were diagnosed through NBS. Global mortality was 14.9%, higher in carbamoylphosphate synthetase 1 deficiency (36.8%) and male OTCD patients (32.1%) compared to other defects (<i>p</i> = 0.013). EO cases presented a higher mortality rate (35.8%) than late-onset (LO) cases (7.1%) (<i>p</i> < 0.0001). The median ammonia level in deceased patients was higher at 1058 µmol/L (IQR 410–1793) than in survivors at 294 µmol/L (IQR 71–494) (<i>p</i> < 0.0001). Diagnosis through NBS improved survival and reduced neurological impairment compared to symptomatic diagnosis. Neurological impairment occurred in 44% of patients, with worse neurological outcomes observed in patients with argininosuccinate lyase deficiency, arginase 1 deficiency, hyperornithinemia-hyperammonemia-homocitrullinuria, EO presentations, pre-2014 diagnosis, and patients with higher levels of ammonia at diagnosis. Among transplanted patients (20.6%), survival was 95.2%, with no significant neurological differences compared to non-transplanted patients. <b>Conclusions</b>: This updated analysis highlights the positive impact of NBS and advanced treatments on mortality and neurologic outcomes. Persistent neurological challenges underscore the need for further therapeutic strategies.This research was partially funded by Lucane SL and Immedica Pharma Spain. Medical writing support was funded by Immedica Pharma Spain.Peer reviewedMultidisciplinary Digital Publishing InstituteLucane PharmaImmedicaPérez, Belén [0000-0002-3190-1958]2025202520252025info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/385752reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)InglésThe underlying dataset has been published as supplementary material of the article in the publisher platform at DOI https://doi.org/10.3390/nu17071173https://doi.org/10.3390/nu17071173Noinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3857522026-05-22T06:33:51Z |
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15,811543 |