Art

J-GLOBAL ID：200902102967038651   Reference number：02A0611900

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).

成人発症II型シトルリン血症(CTLN2)と特発性新生児肝炎(NICCD)の原因としてのミトコンドリアアスパラギン酸グルタミン酸輸送体(シトリン)の欠損

Author (2)： SAHEKI T (Kagoshima Univ., Kagoshima, JPN) ,  KOBAYASHI K (Kagoshima Univ., Kagoshima, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 47  Issue： 7  Page： 333-341  Publication year： 2002 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 解説  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *inborn errors of metabolism ,...
Semi thesaurus term： citrullinemia ,...

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JST classification (5)： Congenital diseases,deformities in general.  (GD03010V) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Digestive system diseases  (GH03000W) ,  Transport of cell membrane  (EF04020R) ,  Function of cell components  (EF03060C)

Reference (81)：

• BISACCIA, F. Identification and purification of the aspartate/glutamate carrier from bovine heart mitochondria. Biochim Biophys Acta. 1992, 1106, 291-296
• CHOW, WC. Case report : recurrent hyperammonaemic encephalopathy due to citrullinaemia in a 52-year-old man. J Gastroenterol Hepatol. 1996, 11, 621-625
• CRACKOWER, MA. Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. Cytogenet Cell Genet. 1999, 87, 197-198
• DEL ARCO, A. Molecular cloning of aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain. J Biol Chem. 1998, 273, 23327-23334
• DEL ARCO, A. Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues. Biochem J. 2000, 345, 725-732

Terms in the title (9)： 成人発症II型シトルリン血症 ,  CTLN2 ,  新生児肝炎 ,  原因 ,  ミトコンドリア ,  アスパラギン酸 ,  グルタミン酸輸送体 ,  シトリン ,  欠損