%0 Journal Article
%A Cano, Ainara
%A Alcalde, Carlos
%A Belanger-Quintana, Amaya
%A Cañedo-Villarroya, Elvira
%A Ceberio, Leticia
%A Chumillas-Calzada, Silvia
%A Correcher, Patricia
%A Couce, María Luz
%A García-Arenas, Dolores
%A Gómez, Igor
%A Hernández, Tomás
%A Izquierdo-García, Elsa
%A Martínez Chicano, Dámaris
%A Morales, Montserrat
%A Pedrón-Giner, Consuelo
%A Petrina Jáuregui, Estrella
%A Peña-Quintana, Luis
%A Sánchez-Pintos, Paula
%A Serrano-Nieto, Juliana
%A Unceta Suarez, María
%A Vitoria Miñana, Isidro
%A de Las Heras, Javier
%T Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.
%D 2021
%@ 2077-0383
%U https://hdl.handle.net/10668/24561
%X 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
%K aldolase B
%K biomarker
%K diet
%K fructose
%K hereditary fructose intolerance
%K sialotransferrin profile
%K sorbitol
%K sucrose
%~