J. Satrústegui

Citrin Deficiency: Biochemical Mechanisms Underlying a Complex Hepatic Metabolic Disorder

Citrin Deficiency (CD), caused by pathogenic variants in SLC25A13, is a rare inherited metabolic disorder with age-dependent manifestations ranging from neonatal intrahepatic cholestasis to adult-onset citrullinemia. Although the genetic basis of CD is well established, the mechanisms linking loss of the mitochondrial...