Non-alcoholic fatty liver in hereditary fructose intolerance

Abstract

This multicenter cross-sectional study evaluates the prevalence of non-alcoholic fatty liver disease (NAFLD) in patients with hereditary fructose intolerance (HFI) under adequate dietary treatment. Sixteen genetically confirmed patients were assessed through anthropometric measurements, biochemical profiling, genetic analysis of ALDOB mutations, and imaging techniques including ultrasound and hepatic MRI. NAFLD was identified in 56% of patients, without association with obesity or insulin resistance. A significant correlation was observed between the c.448G>C (p.Ala150Pro) mutation and the presence of hepatic steatosis. These findings suggest that NAFLD may represent part of the phenotypic spectrum of treated HFI rather than being exclusively linked to poor metabolic control. The study contributes to improving long-term clinical monitoring strategies in rare metabolic disorders.