Citrin deficiency,autosomal recessive disorder,caused by mutation of SLC25A13 gene on chromosome 7q21.3 has two major phenotypes:neonatal intrahepatic cholestatic hepatitis(NICCD)and adult-onset type Ⅱ citrullinemia(...Citrin deficiency,autosomal recessive disorder,caused by mutation of SLC25A13 gene on chromosome 7q21.3 has two major phenotypes:neonatal intrahepatic cholestatic hepatitis(NICCD)and adult-onset type Ⅱ citrullinemia(CTLN2).So far,we have identified 52 SLC25A13 mutations and diagnosed the patients not only in Japan(166 CTLN2 and 238 NICCD) but also in other countries.We have detected 76 Chinese,13 Korean and 15 Vietnamese patients with the same mutations as Japanese,and 13 patients(from Israel,UK,USA or Czech)with mutations different from those found in Japanese,indicating a wide distribution of citrin deficiency.DNA diagnoses of 13 known SLC25A13 mutations revealed that the carrier frequency was high in East Asian populations:Chinese(73/4 600=1/63),Japanese(21/1 372=1/65) and Korean(25/2 690=1/108),suggesting that near by 100 000 East Asians are homozygotes.It is important to find out patients with citrin deficiency,to treat them,and to prevent onset of severe CTLN2.展开更多
Citrin是位于线粒体内膜上的天冬氨酸／谷氨酸载体蛋白，其主要功能是将天冬氨酸由线粒体泵出到细胞质内，与瓜氨酸等一起参与尿素循环。Citrin缺乏症可导致新生儿肝内胆汁淤积症（neonatal intrahepatic cholestasiscaused by citrin d...Citrin是位于线粒体内膜上的天冬氨酸／谷氨酸载体蛋白，其主要功能是将天冬氨酸由线粒体泵出到细胞质内，与瓜氨酸等一起参与尿素循环。Citrin缺乏症可导致新生儿肝内胆汁淤积症（neonatal intrahepatic cholestasiscaused by citrin deficiency，NICCD）和成人期发病高瓜氨酸血症Ⅱ型（adult—onset type Ⅱ citmllinemia，CTLN2）。展开更多
基金Grant-in-Aids for Scientific Research(B:No.16390100 and 19390096)Asia-Africa Scientific Platform Program(AASPP)+1 种基金the Japan Society for the Promotion of Science(JSPS)a Grant for Child Health and Development(17-2 and 20-2)the Ministry of Health,Labour and Welfare in Japan
文摘Citrin deficiency,autosomal recessive disorder,caused by mutation of SLC25A13 gene on chromosome 7q21.3 has two major phenotypes:neonatal intrahepatic cholestatic hepatitis(NICCD)and adult-onset type Ⅱ citrullinemia(CTLN2).So far,we have identified 52 SLC25A13 mutations and diagnosed the patients not only in Japan(166 CTLN2 and 238 NICCD) but also in other countries.We have detected 76 Chinese,13 Korean and 15 Vietnamese patients with the same mutations as Japanese,and 13 patients(from Israel,UK,USA or Czech)with mutations different from those found in Japanese,indicating a wide distribution of citrin deficiency.DNA diagnoses of 13 known SLC25A13 mutations revealed that the carrier frequency was high in East Asian populations:Chinese(73/4 600=1/63),Japanese(21/1 372=1/65) and Korean(25/2 690=1/108),suggesting that near by 100 000 East Asians are homozygotes.It is important to find out patients with citrin deficiency,to treat them,and to prevent onset of severe CTLN2.
文摘Citrin是位于线粒体内膜上的天冬氨酸／谷氨酸载体蛋白，其主要功能是将天冬氨酸由线粒体泵出到细胞质内，与瓜氨酸等一起参与尿素循环。Citrin缺乏症可导致新生儿肝内胆汁淤积症（neonatal intrahepatic cholestasiscaused by citrin deficiency，NICCD）和成人期发病高瓜氨酸血症Ⅱ型（adult—onset type Ⅱ citmllinemia，CTLN2）。
