Review
Open access
Oct 2026
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...
Ismael García-Lobo, A. del Arco, J. Satrústegui et al.
· Biomolecules · 0 citations