Ainara Cano1,2, Carlos Alcalde3, Amaya Belanger-Quintana4, Elvira Cañedo-Villarroya5, Leticia Ceberio1,6, Silvia Chumillas-Calzada7, Patricia Correcher8, María Luz Couce9, Dolores García-Arenas10, Igor Gómez11, Tomás Hernández12, Elsa Izquierdo-García13, Dámaris Martínez Chicano10, Montserrat Morales7, Consuelo Pedrón-Giner5, Estrella Petrina Jáuregui14, Luis Peña-Quintana15, Paula Sánchez-Pintos9, Juliana Serrano-Nieto16, María Unceta Suarez17, Isidro Vitoria Miñana8, Javier de Las Heras18,19,20. 1. Biocruces Bizkaia Health Research Institute, 48093, Barakaldo, Spain. 2. Food Research, AZTI, Basque Research and Technology Alliance (BRTA), Parque Tecnológico de Bizkaia, Astondo Bidea, Edificio 609, 48160, Derio, Spain. 3. Paediatrics Unit, Río Hortega University Hospital, 47012, Valladolid, Spain. 4. Metabolic Diseases Unit, Department of Paediatrics, Ramón y Cajal Hospital, 28034, Madrid, Spain. 5. Department of Metabolism Diseases and Nutrition, Niño Jesús University Children´s Hospital, 28009, Madrid, Spain. 6. Internal Medicine Service, Cruces University Hospital, 48903, Barakaldo, Spain. 7. 12 de Octubre University Hospital, CIBERER, MetabERN, 28041, Madrid, Spain. 8. Nutrition and Metabolic diseases Unit, La Fe University Hospital, 46026, Valencia, Spain. 9. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, IDIS-Health Research Institute of Santiago de Compostela. CIBERER. MetabERN. Santiago de Compostela University Clinical Hospital, 15704, Santiago de Compostela, Spain. 10. Department of Paediatric Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, 08950, Barcelona, Spain. 11. Araba University Hospital, 01009, Vitoria-Gasteiz, Spain. 12. Paediatric Service, Albacete University Hospital, 02006, Castilla-La Mancha, Spain. 13. Pharmacy Department, Infanta Leonor University Hospital, 28031, Madrid, Spain. 14. Clinical Nutrition Section, Navarra University Hospital, 31008, Pamplona, Spain. 15. Paediatric Gastroenterology, Hepatology and Nutrition Unit, Mother and Child Insular University Hospital complex, Asociación Canaria para la Investigación Pediátrica (ACIP), CIBEROBN. University Institute for Research in Biomedical and Health Sciences, University of Las Palmas de Gran Canaria, 35016, Las Palmas de Gran Canaria, Spain. 16. Paediatric Service, Málaga Regional University Hospital (HRU), 29010, Málaga, Spain. 17. Biochemistry Laboratory, Metabolism Area, Cruces University Hospital, 48903, Barakaldo, Spain. 18. Biocruces Bizkaia Health Research Institute, 48093, Barakaldo, Spain. javier.delasherasmontero@osakidetza.eus. 19. Division of Paediatric Metabolism, CIBERER, MetabERN, Cruces University Hospital, 48093, Barakaldo, Spain. javier.delasherasmontero@osakidetza.eus. 20. Department of Paediatrics, University of the Basque Country (UPV/EHU), 48940, Leioa, Spain. javier.delasherasmontero@osakidetza.eus.
Abstract
BACKGROUND: Hereditary 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. METHODS: 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. RESULTS: 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 < 0.001). CONCLUSIONS: 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.
BACKGROUND: Hereditary 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. METHODS: 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. RESULTS: 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 < 0.001). CONCLUSIONS: 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.