Lu Yao-bang, Peng Fei, Li Meng-xian, Kobayashi Keiko, Saheki Takeyori
Department of Biotechnology, Pharmacy College, Hunan University of Traditional Chinese Medicine, Changsha, Hunan, 410007, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Dec;23(6):655-8.
Citrin deficiency causes autosomal recessive disorders including adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The responsive gene of citrin deficiency, SLC25A13, locates on chromosome 7q21.3 and encodes citrin as a liver-type mitochondrial aspartate/glutamate carrier (AGC). The mutations on SLC25A13 will result in deficiency of citrin and CTLN2 or NICCD. Citrin deficiency was found at first in Japan. However, recently, some of cases were identified in China, Korea, Vietnam, Israel, Czech, United States and England, and racial differences of the SLC25A13 mutations were found, suggesting the patients with citrin deficiency maybe exist worldwide. In this article, authors reviewed the progresses in the study on citrin deficiency up to now and put forward authors' considerations for further research on it.
Citrin缺乏症会导致常染色体隐性疾病，包括成人发病型II型瓜氨酸血症（CTLN2）和由Citrin缺乏引起的新生儿肝内胆汁淤积症（NICCD）。Citrin缺乏症的相关基因SLC25A13定位于7号染色体的q21.3位置，编码一种肝脏型线粒体天冬氨酸/谷氨酸载体（AGC），即citrin。SLC25A13上的突变会导致citrin缺乏，进而引发CTLN2或NICCD。Citrin缺乏症最初在日本被发现。然而，最近在中国、韩国、越南、以色列、捷克、美国和英国都发现了一些病例，并且发现了SLC25A13突变的种族差异，这表明Citrin缺乏症患者可能在全球范围内存在。在本文中，作者回顾了目前关于Citrin缺乏症的研究进展，并提出了作者对其进一步研究的思考。
