Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle |
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| Authors: | Saheki Takeyori Kobayashi Keiko Iijima Mikio Horiuchi Masahisa Begum Laila Jalil Md Abdul Li Meng Xian Lu Yao Bang Ushikai Miharu Tabata Ayako Moriyama Mitsuaki Hsiao Kwang-Jen Yang Yanling |
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| Affiliation: | Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan. takesah@m.kufm.kagoshima-u.ac.jp |
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| Abstract: | Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. In this report, we describe the frequency of SLC25A13 mutations, the roles of citrin as a member of the urea cycle and as a member of the malate-aspartate shuttle, the relationship between its functions and symptoms of citrin deficiency, and therapeutic issues. |
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