A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine

Abstract

Citrin deficiency, caused by a mutation of the SLC25A13 gene, s an autosomal recessive disorder that leads to neonatal intraheptic cholestasis caused by citrin deficiency (NICCD) and adult-onset ype II citrullinemia (CTLN2) [1]. The function of citrin is imporant in translocating cytosolic NADH reducing equivalents into he mitochondria as part of the malate-aspartate shuttle [2]. In ddition, citrin plays an important role in supplying aspartate o argininosuccinate synthetase (ASS) in the cytosol to generte argininosuccinate in the urea cycle [2]. Thus, a deficiency f citrin results in dysfunction of the urea cycle and hyperamonemia [1]. Patients with CTLN2 present with sudden onset of arious encephalopathic manifestations due to hyperammonemia 2]. One of the distinct features of citrin deficiency is that the ajority of patients have a peculiar fondness for proteinand at-rich foods, such as beans and peanuts, and an aversion to arbohydrate-rich foods, such as rice, sweets, and alcohol [2]. It is ssumed that their unique food preference may be directly related