Citrin deficiency ­ pathogenesis, clinical and biochemical manifestation, diagnostics, treatment / Deficyt cytrynu.

ABSTRACT

Citrin deficiency is an inherited metabolic disease caused by biallelic pathogenic variants in the SLC25A13 gene encoding the carrier protein called citrin. There are observed three characteristic clinical and biochemical age-dependent phenotypes neonatal intrahepatic cholestasis caused by citrin deficiency, failure to thrive and dyslipidemia caused by citrin deficiency and adult-onset citrullinemia type 2. The paper presents the characteristics of the pathogenesis of citrin deficiency, clinical and biochemical delineation of individual phenotypes, differential diagnosis and treatment of citrin deficiency.