Cano, AinaraAlcalde, CarlosBelanger-Quintana, AmayaCañedo-Villarroya, ElviraCeberio, LeticiaChumillas-Calzada, SilviaCorrecher, PatriciaCouce, María LuzGarcía-Arenas, DoloresGómez, IgorHernández, TomásIzquierdo-García, ElsaMartínez Chicano, DámarisMorales, MontserratPedrón-Giner, ConsueloPetrina Jáuregui, EstrellaPeña-Quintana, LuisSánchez-Pintos, PaulaSerrano-Nieto, JulianaUnceta Suarez, MaríaVitoria Miñana, Isidrode Las Heras, Javier2025-01-072025-01-072021-06-302077-0383https://hdl.handle.net/10668/24561Hereditary 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, penAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/aldolase Bbiomarkerdietfructosehereditary fructose intolerancesialotransferrin profilesorbitolsucroseresearch article34208868open access10.3390/jcm10132932PMC8267838https://www.mdpi.com/2077-0383/10/13/2932/pdf?version=1625036759https://pmc.ncbi.nlm.nih.gov/articles/PMC8267838/pdf