Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance
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Date
2021-06-30Author
Cano San José, Ainara
Alcalde, Carlos
Belanger Quintana, Amaya
Cañedo Villarroya, Elvira
Ceberio, Leticia
Chumillas Calzada, Silvia
Correcher, Patricia
Couce, María Luz
García Arenas, Dolores
Gómez, Igor
Hernández, Tomás
Izquierdo García, Elsa
Martínez Chicano, Dámaris
Morales, Montserrat
Pedrón Giner, Consuelo
Petrina Jáuregui, Estrella
Peña Quintana, Luis
Sánchez Pintos, Paula
Serrano Nieto, Juliana
Unceta Suárez, María
Vitoria Miñana, Isidro
De las Heras Montero, Javier Adolfo
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Journal of Clinical Medicine 10(13) : (2021) // Article ID 2932
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.
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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/).