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Citrin is a liver-type mitochondrial aspartate-glutamate carrier (AGC) encoded by the SLC25A13 gene, and its deficiency causes adult-onset type Ⅱ citrullinemia (CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).Citrin deficiency was thought to be restricted to Japan, however, recendy many cases have been found in other countries including China, indicating a wide distribution of citrin deficiency.Previous investigation (Lu et al.J Hum Genet 50:338-346, 2005) reported a remarkable difference in carrier rates in China (including Taiwan) between north (1/940) and south (1/48) of the Yangtze River.