Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance
dc.contributor.author | Cano San José, Ainara | |
dc.contributor.author | Alcalde, Carlos | |
dc.contributor.author | Belanger Quintana, Amaya | |
dc.contributor.author | Cañedo Villarroya, Elvira | |
dc.contributor.author | Ceberio, Leticia | |
dc.contributor.author | Chumillas Calzada, Silvia | |
dc.contributor.author | Correcher, Patricia | |
dc.contributor.author | Couce, María Luz | |
dc.contributor.author | García Arenas, Dolores | |
dc.contributor.author | Gómez, Igor | |
dc.contributor.author | Hernández, Tomás | |
dc.contributor.author | Izquierdo García, Elsa | |
dc.contributor.author | Martínez Chicano, Dámaris | |
dc.contributor.author | Morales, Montserrat | |
dc.contributor.author | Pedrón Giner, Consuelo | |
dc.contributor.author | Petrina Jáuregui, Estrella | |
dc.contributor.author | Peña Quintana, Luis | |
dc.contributor.author | Sánchez Pintos, Paula | |
dc.contributor.author | Serrano Nieto, Juliana | |
dc.contributor.author | Unceta Suárez, María | |
dc.contributor.author | Vitoria Miñana, Isidro | |
dc.contributor.author | De las Heras Montero, Javier Adolfo | |
dc.date.accessioned | 2021-07-15T09:30:37Z | |
dc.date.available | 2021-07-15T09:30:37Z | |
dc.date.issued | 2021-06-30 | |
dc.identifier.citation | Journal of Clinical Medicine 10(13) : (2021) // Article ID 2932 | es_ES |
dc.identifier.issn | 2077-0383 | |
dc.identifier.uri | http://hdl.handle.net/10810/52461 | |
dc.description.abstract | Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI. The CDT values improve when an FSS-restrictive diet is followed; however, previous data on CDT and fructose intake correlation are inconsistent. Therefore, we examined the complete serum sialoTf profile and correlated it with FSS dietary intake and with hepatic parameters in a cohort of paediatric and adult fructosemic patients. To do so, the profiles of serum sialoTf from genetically diagnosed HFI patients on an FSS-restricted diet (n = 37) and their age-, sex- and body mass index-paired controls (n = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, p < 0.001) and FSS (R = 0.475, p = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = −0.386, p = 0.024) and FSS (R = −0.400, p = 0.019). In addition, the tetrasialoTf/disialoTf ratio truthfully differentiated treated HFI patients from healthy controls, with an area under the ROC curve (AUROC) of 0.97, 92% sensitivity, 94% specificity and 93% accuracy. | es_ES |
dc.description.sponsorship | This work was supported by Exp. No. 2018111095, Basque Government, Health Department to J.D.H., and by FEDER; Federación Española de Enfermedades Raras (FI18053). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | MDPI | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | |
dc.subject | hereditary fructose intolerance | es_ES |
dc.subject | fructose | es_ES |
dc.subject | sucrose | es_ES |
dc.subject | sorbitol | es_ES |
dc.subject | diet | es_ES |
dc.subject | sialotransferrin profile | es_ES |
dc.subject | biomarker | es_ES |
dc.subject | aldolase B | es_ES |
dc.title | Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.date.updated | 2021-07-08T14:21:55Z | |
dc.rights.holder | © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). | es_ES |
dc.relation.publisherversion | https://www.mdpi.com/2077-0383/10/13/2932 | es_ES |
dc.identifier.doi | 10.3390/jcm10132932 | |
dc.departamentoes | Pediatría | |
dc.departamentoeu | Pediatria |
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Except where otherwise noted, this item's license is described as © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).