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 elem...