Pathogenesis and Pathophysiology of Citrin (a Mitochondrial Aspartate Glutamate Carrier) Deficiency

@article{Saheki2002PathogenesisAP,
  title={Pathogenesis and Pathophysiology of Citrin (a Mitochondrial Aspartate Glutamate Carrier) Deficiency},
  author={Takeyori Saheki and Keiko Kobayashi and Mikio Iijima and Ikumi Nishi and Tomotsugu Yasuda and Naoki Yamaguchi and Hong Zhi Gao and Md. Abdul Jalil and Laila Begum and Meng Xian Li},
  journal={Metabolic Brain Disease},
  year={2002},
  volume={17},
  pages={335-346}
}
Adult-onset type II citrullinemia (CTLN2), characterized by a liver-specific deficiency of urea cycle enzyme, argininosuccinate synthetase, is caused by mutations in SLC25A13 that encodes a calcium binding mitochondrial solute carrier protein, citrin. Citrin deficiency causes not only CTLN2 but also neonatal intrahepatic cholestasis caused by citrin deficiency at neonatal period. Moreover citrin and its isoform aralar were found to be aspartate glutamate carrier. From the viewpoint of the… CONTINUE READING