FGF21 elevation is a biomarker of citrin deficiency and its metabolic dysregulation in pediatric patients

Introduction Citrin Deficiency (CD) is an autosomal recessive metabolic disorder caused by SLC25A13 gene mutations. Fibroblast growth factor 21 (FGF21) is a hepatokine that is highly elevated in the mouse model of CD and has been implicated in pathways involving glycerol-3-phosphate (G3P) and carbohydrate response element-binding protein (ChREBP).Materials and methods Under IRB protocols, plasma (67 samples), clinical data and dietary information were obtained from a cohort of 29 children with CD. Plasma FGF21 levels were determined by ELISA. Correlations between FGF21, biochemical parameters, amino acid profiles, dietary intake, and clinical data were analyzed.Results The data indicate that CD patients have highly elevated FGF21 circulation (LMM adjusted p Discussion FGF21 is significantly elevated in children with CD and is associated with alteration of lipid and amino acid profiles, including triglycerides, citrulline, and threonine. These findings suggest FGF21 may reflect metabolic status in CD. Further longitudinal studies are needed to evaluate its utility in monitoring disease status and treatment response.