[Progresses and perspectives in the study on citrin deficiency].
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.
Lu
Yao-bang
YB
Department of Biotechnology, Pharmacy College, Hunan University of Traditional Chinese Medicine, Changsha, Hunan, 410007, P. R. China. luyb414@sina.com
Peng
Fei
F
Li
Meng-xian
MX
Kobayashi
Keiko
K
Saheki
Takeyori
T
D000818:Animals; D002135:Calcium-Binding Proteins / Q000172:deficiency / Q000235:genetics*; D002780:Cholestasis, Intrahepatic / Q000235:genetics* / Q000601:surgery; D002897:Chromosomes, Human, Pair 7; D020159:Citrullinemia / Q000209:etiology / Q000235:genetics* / Q000601:surgery; D006801:Humans; D016031:Liver Transplantation; D026901:Membrane Transport Proteins / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics; D027361:Organic Anion Transporters / Q000172:deficiency / Q000235:genetics*; D017354:Point Mutation
D002135:Calcium-Binding Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin