1. Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance
- Author
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Giancarlo Parenti, Maria Grazia Caprio, Gianfranco Vallone, Raffaele Iorio, M.G. Puoti, Gabriella Esposito, Simona Fecarotta, Severo Pagliardini, Claudia Zuppaldi, Simona Spadarella, Maria Immacolata Spagnuolo, Fabiola Di Dato, Di Dato, Fabiola, Spadarella, Simona, Puoti, Maria Giovanna, Caprio, Maria Grazia, Pagliardini, Severo, Zuppaldi, Claudia, Vallone, Gianfranco, Fecarotta, Simona, Esposito, Gabriella, Iorio, Raffaele, Parenti, Giancarlo, and Spagnuolo, Maria Immacolata
- Subjects
0301 basic medicine ,Male ,Sucrose ,Hereditary fructose intolerance ,Gastroenterology ,Severity of Illness Index ,fructose ,chemistry.chemical_compound ,Diet, Carbohydrate-Restricted ,Fructose-Bisphosphate Aldolase ,Child ,chemistry.chemical_classification ,Liver injury ,Aldolase B ,Fructose ,Liver steatosis ,Sialotransferrin profile ,Sorbitol ,Adolescent ,Alanine Transaminase ,Biomarkers ,Fatty Liver ,Female ,Fructose Intolerance ,Genetic Predisposition to Disease ,Humans ,Mutation ,Phenotype ,Retrospective Studies ,Sialoglycoproteins ,Transferrin ,Nutrition and Dietetics ,biology ,sucrose ,lcsh:Nutrition. Foods and food supply ,medicine.medical_specialty ,lcsh:TX341-641 ,Article ,liver steatosis ,liver steatosi ,03 medical and health sciences ,Internal medicine ,medicine ,sorbitol ,Carbohydrate-Restricted ,030102 biochemistry & molecular biology ,sialotransferrin profile ,business.industry ,aldolase B ,medicine.disease ,Diet ,030104 developmental biology ,chemistry ,biology.protein ,Steatosis ,business ,Food Science - Abstract
Background: Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term period, in a cohort of young patients affected by HFI. Methods: Patients&rsquo, clinical data and fructose daily intake were retrospectively collected. Correlations among fructose intake, serum alanine aminotransferase (ALT) level, carbohydrate-deficient transferrin (CDT) percentage, liver ultrasonography, genotype were analyzed. Results: We included 48 patients whose mean follow-up was 10.3 ±, 5.6 years and fructose intake 169 ±, 145.4 mg/day. Eighteen patients had persistently high ALT level, nine had abnormal CDT profile, 45 had signs of liver steatosis. Fructose intake did not correlate with ALT level nor with steatosis severity, whereas it correlated with disialotransferrin percentage (R2 0.7, p <, 0.0001) and tetrasialotransferrin/disialotransferrin ratio (R2 0.5, p = 0.0001). p.A150P homozygous patients had lower ALT values at diagnosis than p.A175D variant homozygotes cases (58 ±, 55 IU/L vs. 143 ±, 90 IU/L, p = 0.01). Conclusion: A group of HFI patients on FSS-free diet presented persistent mild hypertransaminasemia which did not correlate with fructose intake. Genotypes may influence serum liver enzyme levels. CDT profile represents a good marker to assess FSS intake.
- Published
- 2019
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