Physiological role of citrin, a liver-type mitochondrial aspartate-glutamate carrier, and pathophysiology of citrin deficiency
Physiological role of citrin, a liver-type mitochondrial aspartate-glutamate carrier, and pathophysiology of citrin deficiency
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发表时间：
2005
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通讯作者：
T. Saheki;Keiko Kobayashi
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作者：
T. Saheki;Keiko Kobayashi
Citrin是一种线粒体谷氨酸盐-谷氨酸盐载体，主要在肝脏、心脏和肾脏中表达。它在各种代谢途径中发挥作用，包括有氧糖酵解、代谢产物生成、尿素循环以及蛋白质和核苷酸合成。我们发现，人类瓜氨酸缺乏症会导致成人发病的II型瓜氨酸血症（CTLN 2）和新生儿胆汁淤积性肝炎（NICCD）。基于目前柠檬酸在代谢中的作用，我们描述了柠檬酸缺乏症的病理生理和治疗。
Citrin is a mitochondrial aspartate-glutamate carrier predominantly expressed in the liver, heart, and kidney. It plays a role in various metabolic pathways, including aerobic glycolysis, gluconeogenesis, the urea cycle, and protein and nucleotide syntheses. We found that human citrin deficiency causes adult-onset type II citrullinemia (CTLN2) and neonatal cholestatic hepatitis (NICCD). Based on the current functions of citrin in the metabolism, we describe the pathophysiology and treatments of citrin deficiency.