Abstract：
Citrin deficiency (CD) is a complex metabolic condition due to defects in SLC25A13 encoding citrin, an aspartate/glutamate carrier located in the mitochondrial inner membrane. The condition was first described in Japan and other East Asian countries in patients who were thought to suffer from classical citrullinemia type 1, and was therefore classified as a urea cycle disorder. With an improved understanding of its molecular basis, it became apparent that a defect of citrin is primarily affecting the malate-aspartate shuttle with however multiple secondary effects on many central metabolic pathways including glycolysis, gluconeogenesis, de novo lipogenesis and ureagenesis. In the meantime, it became also clear that CD must be considered as a global disease with patients identified in many parts of the world and affected by SLC25A13 genotypes different from those known in East Asian populations. The present short review summarizes the (hi)story of this complex metabolic condition and tries to explain the relevance of including CD as a differential diagnosis in neonates and infants with cholestasis and in (not only adult) patients with hyperammonemia of unknown origin with subsequent impact on the emergency management.
摘要：
citrin缺乏症（CD）是一种复杂的代谢条件，由于编码citrin的SLC25A13的缺陷，位于线粒体内膜的天冬氨酸/谷氨酸载体。这种情况首先在日本和其他东亚国家被认为患有1型经典瓜氨酸血症的患者中描述，因此被归类为尿素循环障碍。随着对其分子基础的更好理解，很明显，citrin的缺陷主要影响苹果酸-天冬氨酸穿梭，但是对许多中枢代谢途径包括糖酵解的多重次要影响，糖异生,从头脂肪生成和尿道发育。同时,我们还清楚地认识到,必须将CD视为一种全球性疾病,在世界许多地区确定的患者受SLC25A13基因型的影响,这些基因型与东亚人群中已知的基因型不同.本简短综述总结了这种复杂代谢状况的（hi）故事，并试图解释将CD作为新生儿和婴儿胆汁淤积症以及（不仅是成人）不明原因的高氨血症患者的鉴别诊断的相关性。对应急管理的影响。
