Non-alcoholic fatty liver in hereditary fructose intolerance

This multicenter cross-sectional study evaluates the prevalence of non-alcoholic fatty liver disease (NAFLD) in patients with hereditary fructose intolerance (HFI) under adequate dietary treatment. Sixteen genetically confirmed patients were assessed through anthropometric measurements, biochemical...

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Autores: Aldamiz Echevarría, Luis, Heras, Javier de las, Couce, María Luz, Alcalde, Carlos, Vitoria, Isidro, Bueno, María, Blasco, Javier, García, María Concepción, Ruiz, Mónica, Suárez del Villar, Rafael, Andrade, Fernando, Villate, Olatz
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Universidad Camilo José Cela (UCJC)
Repositorio:Depósito Digital e-UCJC
OAI Identifier:oai:repositorio.ucjc.edu:20.500.12020/1931
Acceso en línea:http://hdl.handle.net/20.500.12020/1931
https://doi.org/10.1016/j.clnu.2019.02.019
Access Level:acceso abierto
Palabra clave:Ciencias Biomédicas
Ciencias de la Naturaleza
Non-alcoholic fatty liver disease
Hereditary fructose intolerance
ALDOB gene
Fatty liver
Metabolic disorders
Genetic mutations
3205 Medicina Interna
3206 Ciencias de la Nutrición
3207 Patología
2409 Genética
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oai_identifier_str oai:repositorio.ucjc.edu:20.500.12020/1931
network_acronym_str ES
network_name_str España
repository_id_str
spelling Non-alcoholic fatty liver in hereditary fructose intoleranceAldamiz Echevarría, LuisHeras, Javier de lasCouce, María LuzAlcalde, CarlosVitoria, IsidroBueno, MaríaBlasco, JavierGarcía, María ConcepciónRuiz, MónicaSuárez del Villar, RafaelAndrade, FernandoVillate, OlatzCiencias BiomédicasCiencias de la NaturalezaNon-alcoholic fatty liver diseaseHereditary fructose intoleranceALDOB geneFatty liverMetabolic disordersGenetic mutations3205 Medicina Interna3206 Ciencias de la Nutrición3207 Patología2409 GenéticaThis multicenter cross-sectional study evaluates the prevalence of non-alcoholic fatty liver disease (NAFLD) in patients with hereditary fructose intolerance (HFI) under adequate dietary treatment. Sixteen genetically confirmed patients were assessed through anthropometric measurements, biochemical profiling, genetic analysis of ALDOB mutations, and imaging techniques including ultrasound and hepatic MRI. NAFLD was identified in 56% of patients, without association with obesity or insulin resistance. A significant correlation was observed between the c.448G>C (p.Ala150Pro) mutation and the presence of hepatic steatosis. These findings suggest that NAFLD may represent part of the phenotypic spectrum of treated HFI rather than being exclusively linked to poor metabolic control. The study contributes to improving long-term clinical monitoring strategies in rare metabolic disorders.Elsevier Ltd (European Society for Clinical Nutrition and Metabolism – ESPEN)2020info:eu-repo/semantics/articlehttp://hdl.handle.net/20.500.12020/1931https://doi.org/10.1016/j.clnu.2019.02.019reponame:Depósito Digital e-UCJCinstname:Universidad Camilo José Cela (UCJC)Inglésinfo:eu-repo/semantics/openAccessoai:repositorio.ucjc.edu:20.500.12020/19312026-05-27T07:36:51Z
dc.title.none.fl_str_mv Non-alcoholic fatty liver in hereditary fructose intolerance
title Non-alcoholic fatty liver in hereditary fructose intolerance
spellingShingle Non-alcoholic fatty liver in hereditary fructose intolerance
Aldamiz Echevarría, Luis
Ciencias Biomédicas
Ciencias de la Naturaleza
Non-alcoholic fatty liver disease
Hereditary fructose intolerance
ALDOB gene
Fatty liver
Metabolic disorders
Genetic mutations
3205 Medicina Interna
3206 Ciencias de la Nutrición
3207 Patología
2409 Genética
title_short Non-alcoholic fatty liver in hereditary fructose intolerance
title_full Non-alcoholic fatty liver in hereditary fructose intolerance
title_fullStr Non-alcoholic fatty liver in hereditary fructose intolerance
title_full_unstemmed Non-alcoholic fatty liver in hereditary fructose intolerance
title_sort Non-alcoholic fatty liver in hereditary fructose intolerance
dc.creator.none.fl_str_mv Aldamiz Echevarría, Luis
Heras, Javier de las
Couce, María Luz
Alcalde, Carlos
Vitoria, Isidro
Bueno, María
Blasco, Javier
García, María Concepción
Ruiz, Mónica
Suárez del Villar, Rafael
Andrade, Fernando
Villate, Olatz
author Aldamiz Echevarría, Luis
author_facet Aldamiz Echevarría, Luis
Heras, Javier de las
Couce, María Luz
Alcalde, Carlos
Vitoria, Isidro
Bueno, María
Blasco, Javier
García, María Concepción
Ruiz, Mónica
Suárez del Villar, Rafael
Andrade, Fernando
Villate, Olatz
author_role author
author2 Heras, Javier de las
Couce, María Luz
Alcalde, Carlos
Vitoria, Isidro
Bueno, María
Blasco, Javier
García, María Concepción
Ruiz, Mónica
Suárez del Villar, Rafael
Andrade, Fernando
Villate, Olatz
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Ciencias Biomédicas
Ciencias de la Naturaleza
Non-alcoholic fatty liver disease
Hereditary fructose intolerance
ALDOB gene
Fatty liver
Metabolic disorders
Genetic mutations
3205 Medicina Interna
3206 Ciencias de la Nutrición
3207 Patología
2409 Genética
topic Ciencias Biomédicas
Ciencias de la Naturaleza
Non-alcoholic fatty liver disease
Hereditary fructose intolerance
ALDOB gene
Fatty liver
Metabolic disorders
Genetic mutations
3205 Medicina Interna
3206 Ciencias de la Nutrición
3207 Patología
2409 Genética
description This multicenter cross-sectional study evaluates the prevalence of non-alcoholic fatty liver disease (NAFLD) in patients with hereditary fructose intolerance (HFI) under adequate dietary treatment. Sixteen genetically confirmed patients were assessed through anthropometric measurements, biochemical profiling, genetic analysis of ALDOB mutations, and imaging techniques including ultrasound and hepatic MRI. NAFLD was identified in 56% of patients, without association with obesity or insulin resistance. A significant correlation was observed between the c.448G>C (p.Ala150Pro) mutation and the presence of hepatic steatosis. These findings suggest that NAFLD may represent part of the phenotypic spectrum of treated HFI rather than being exclusively linked to poor metabolic control. The study contributes to improving long-term clinical monitoring strategies in rare metabolic disorders.
publishDate 2020
dc.date.none.fl_str_mv 2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/20.500.12020/1931
https://doi.org/10.1016/j.clnu.2019.02.019
url http://hdl.handle.net/20.500.12020/1931
https://doi.org/10.1016/j.clnu.2019.02.019
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Elsevier Ltd (European Society for Clinical Nutrition and Metabolism – ESPEN)
publisher.none.fl_str_mv Elsevier Ltd (European Society for Clinical Nutrition and Metabolism – ESPEN)
dc.source.none.fl_str_mv reponame:Depósito Digital e-UCJC
instname:Universidad Camilo José Cela (UCJC)
instname_str Universidad Camilo José Cela (UCJC)
reponame_str Depósito Digital e-UCJC
collection Depósito Digital e-UCJC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,81155

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