Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance
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 abnor...
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MDPI AG
2021-06-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/10/13/2932 |
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| author | Ainara Cano Carlos Alcalde Amaya Belanger-Quintana Elvira Cañedo-Villarroya Leticia Ceberio Silvia Chumillas-Calzada Patricia Correcher María Luz Couce Dolores García-Arenas Igor Gómez Tomás Hernández Elsa Izquierdo-García Dámaris Martínez Chicano Montserrat Morales Consuelo Pedrón-Giner Estrella Petrina Jáuregui Luis Peña-Quintana Paula Sánchez-Pintos Juliana Serrano-Nieto María Unceta Suarez Isidro Vitoria Miñana Javier de las Heras |
| author_facet | Ainara Cano Carlos Alcalde Amaya Belanger-Quintana Elvira Cañedo-Villarroya Leticia Ceberio Silvia Chumillas-Calzada Patricia Correcher María Luz Couce Dolores García-Arenas Igor Gómez Tomás Hernández Elsa Izquierdo-García Dámaris Martínez Chicano Montserrat Morales Consuelo Pedrón-Giner Estrella Petrina Jáuregui Luis Peña-Quintana Paula Sánchez-Pintos Juliana Serrano-Nieto María Unceta Suarez Isidro Vitoria Miñana Javier de las Heras |
| author_sort | Ainara Cano |
| collection | DOAJ |
| description | 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 (<i>n</i> = 37) and their age-, sex- and body mass index-paired controls (<i>n</i> = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, <i>p</i> < 0.001) and FSS (R = 0.475, <i>p</i> = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = −0.386, <i>p</i> = 0.024) and FSS (R = −0.400, <i>p</i> = 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. |
| first_indexed | 2024-03-09T04:43:50Z |
| format | Article |
| id | doaj.art-423736d83a654f508e84a853c783debd |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T04:43:50Z |
| publishDate | 2021-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-423736d83a654f508e84a853c783debd2023-12-03T13:17:35ZengMDPI AGJournal of Clinical Medicine2077-03832021-06-011013293210.3390/jcm10132932Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose IntoleranceAinara Cano0Carlos Alcalde1Amaya Belanger-Quintana2Elvira Cañedo-Villarroya3Leticia Ceberio4Silvia Chumillas-Calzada5Patricia Correcher6María Luz Couce7Dolores García-Arenas8Igor Gómez9Tomás Hernández10Elsa Izquierdo-García11Dámaris Martínez Chicano12Montserrat Morales13Consuelo Pedrón-Giner14Estrella Petrina Jáuregui15Luis Peña-Quintana16Paula Sánchez-Pintos17Juliana Serrano-Nieto18María Unceta Suarez19Isidro Vitoria Miñana20Javier de las Heras21Biocruces Bizkaia Health Research Institute, 48093 Barakaldo, SpainPaediatrics Unit, Río Hortega University Hospital, 47012 Valladolid, SpainMetabolic Diseases Unit, Department of Paediatrics, Ramon y Cajal Hospital, 28034 Madrid, SpainDepartment of Metabolism Diseases and Nutrition, Niño Jesús University Children’s Hospital, 28009 Madrid, SpainInternal Medicine Service, Cruces University Hospital, 48903 Barakaldo, Spain12 de Octubre University Hospital, CIBERER, 28041 Madrid, SpainNutrition and Metabolic diseases Unit, La Fe University Hospital, 46026 Valencia, SpainUnit 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, SpainDepartment of Paediatric Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, 08950 Barcelona, SpainAraba University Hospital, 01009 Gasteiz, SpainPaediatric Service, Albacete University Hospital, 02006 Castilla-La Mancha, SpainPharmacy Department, Infanta Leonor University Hospital, 28031 Madrid, SpainDepartment of Paediatric Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, 08950 Barcelona, Spain12 de Octubre University Hospital, CIBERER, 28041 Madrid, SpainGastroenterology and Nutrition Section, Niño Jesús University Children’s Hospital, 28009 Madrid, SpainClinical Nutrition Section, Navarra University Hospital, 31008 Pamplona, SpainPediatric 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, SpainUnit 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, SpainPaediatric Service, Málaga Regional University Hospital (HRU), 29010 Málaga, SpainBiochemistry Laboratory, Metabolism Area, Cruces University Hospital, 48903 Barakaldo, SpainNutrition and Metabolic diseases Unit, La Fe University Hospital, 46026 Valencia, SpainBiocruces Bizkaia Health Research Institute, 48093 Barakaldo, SpainHereditary 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 (<i>n</i> = 37) and their age-, sex- and body mass index-paired controls (<i>n</i> = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, <i>p</i> < 0.001) and FSS (R = 0.475, <i>p</i> = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = −0.386, <i>p</i> = 0.024) and FSS (R = −0.400, <i>p</i> = 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.https://www.mdpi.com/2077-0383/10/13/2932hereditary fructose intolerancefructosesucrosesorbitoldietsialotransferrin profile |
| spellingShingle | Ainara Cano Carlos Alcalde Amaya Belanger-Quintana Elvira Cañedo-Villarroya Leticia Ceberio Silvia Chumillas-Calzada Patricia Correcher María Luz Couce Dolores García-Arenas Igor Gómez Tomás Hernández Elsa Izquierdo-García Dámaris Martínez Chicano Montserrat Morales Consuelo Pedrón-Giner Estrella Petrina Jáuregui Luis Peña-Quintana Paula Sánchez-Pintos Juliana Serrano-Nieto María Unceta Suarez Isidro Vitoria Miñana Javier de las Heras Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance Journal of Clinical Medicine hereditary fructose intolerance fructose sucrose sorbitol diet sialotransferrin profile |
| title | Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance |
| title_full | Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance |
| title_fullStr | Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance |
| title_full_unstemmed | Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance |
| title_short | Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance |
| title_sort | transferrin isoforms old but new biomarkers in hereditary fructose intolerance |
| topic | hereditary fructose intolerance fructose sucrose sorbitol diet sialotransferrin profile |
| url | https://www.mdpi.com/2077-0383/10/13/2932 |
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