Cano, AinaraAlcalde, CarlosBelanger-Quintana, AmayaCañedo-Villarroya, ElviraCeberio, LeticiaChumillas-Calzada, SilviaCorrecher, PatriciaCouce, María LuzGarcía-Arenas, DoloresGómez, IgorHernández, TomásIzquierdo-García, ElsaChicano, Dámaris MartínezMorales, MontserratPedrón-Giner, ConsueloJáuregui, Estrella PetrinaPeña-Quintana, LuisSánchez-Pintos, PaulaSerrano-Nieto, JulianaSuarez, María UncetaMiñana, Isidro Vitoriade Las Heras, Javier2023-05-032023-05-032022-07-19http://hdl.handle.net/10668/19533Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of presenting vitamin deficiencies. Although there is no published data on the status of these vitamins in HFI patients, supplementation with vitamin C and folic acid is common. Therefore, the aim of this study was to assess vitamin C and folate status and supplementation practices in a nationwide cohort of HFI patients. Vitamin C and folic acid dietary intake, supplementation and circulating levels were assessed in 32 HFI patients and 32 age- and sex-matched healthy controls. Most of the HFI participants presented vitamin C (96.7%) and folate (90%) dietary intake below the recommended population reference intake. Up to 69% received vitamin C and 50% folic acid supplementation. Among HFI patients, 15.6% presented vitamin C and 3.1% folate deficiency. The amount of vitamin C supplementation and plasma levels correlated positively (R = 0.443; p = 0.011). Interestingly, a higher percentage of non-supplemented HFI patients were vitamin C deficient when compared to supplemented HFI patients (30% vs. 9.1%; p = 0.01) and to healthy controls (30% vs. 3.1%; p  Our results provide evidence for the first time supporting vitamin C supplementation in HFI. There is great heterogeneity in vitamin supplementation practices and, despite follow-up at specialised centres, vitamin C deficiency is common. Further research is warranted to establish optimal doses of vitamin C and the need for folic acid supplementation in HFI.enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/HumansFructose IntoleranceFolic AcidAscorbic AcidVitaminsFructoseVitamin B 12research article35854131open access10.1038/s41430-022-01178-31476-5640PMC9708598https://www.nature.com/articles/s41430-022-01178-3.pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9708598/pdf