| Autor: |
Cano A; Biocruces Bizkaia Health Research Institute, 48093 Barakaldo, Spain., Alcalde C; Paediatrics Unit, Río Hortega University Hospital, 47012 Valladolid, Spain., Belanger-Quintana A; Metabolic Diseases Unit, Department of Paediatrics, Ramon y Cajal Hospital, 28034 Madrid, Spain., Cañedo-Villarroya E; Department of Metabolism Diseases and Nutrition, Niño Jesús University Children's Hospital, 28009 Madrid, Spain., Ceberio L; Internal Medicine Service, Cruces University Hospital, 48903 Barakaldo, Spain., Chumillas-Calzada S; 12 de Octubre University Hospital, CIBERER, 28041 Madrid, Spain., Correcher P; Nutrition and Metabolic diseases Unit, La Fe University Hospital, 46026 Valencia, Spain., Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, CIBERER, MetabERN, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain., García-Arenas D; Department of Paediatric Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, 08950 Barcelona, Spain., Gómez I; Araba University Hospital, 01009 Gasteiz, Spain., Hernández T; Paediatric Service, Albacete University Hospital, 02006 Castilla-La Mancha, Spain., Izquierdo-García E; Pharmacy Department, Infanta Leonor University Hospital, 28031 Madrid, Spain., Martínez Chicano D; Department of Paediatric Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, 08950 Barcelona, Spain., Morales M; 12 de Octubre University Hospital, CIBERER, 28041 Madrid, Spain., Pedrón-Giner C; Gastroenterology and Nutrition Section, Niño Jesús University Children's Hospital, 28009 Madrid, Spain., Petrina Jáuregui E; Clinical Nutrition Section, Navarra University Hospital, 31008 Pamplona, Spain., Peña-Quintana L; Pediatric 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., Sánchez-Pintos P; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, CIBERER, MetabERN, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain., Serrano-Nieto J; Paediatric Service, Málaga Regional University Hospital (HRU), 29010 Málaga, Spain., Unceta Suarez M; Biochemistry Laboratory, Metabolism Area, Cruces University Hospital, 48903 Barakaldo, Spain., Vitoria Miñana I; Nutrition and Metabolic diseases Unit, La Fe University Hospital, 46026 Valencia, Spain., de Las Heras J; Biocruces Bizkaia Health Research Institute, 48093 Barakaldo, Spain.; Division of Paediatric Metabolism, CIBERER, Cruces University Hospital, 48093 Barakaldo, Spain.; Department of Paediatrics, University of the Basque Country (UPV/EHU), 48940 Leioa, Spain. |
| Abstrakt: |
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. |
