2. Academic Validation
  3. 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

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

  • Mol Genet Metab. 2004 Apr;81 Suppl 1:S20-6. doi: 10.1016/j.ymgme.2004.01.006.
Takeyori Saheki 1,  Keiko Kobayashi,  Mikio Iijima,  Masahisa Horiuchi,  Laila Begum,  Md Abdul Jalil,  Meng Xian Li,  Yao Bang Lu,  Miharu Ushikai,  Ayako Tabata,  Mitsuaki Moriyama,  Kwang-Jen Hsiao,  Yanling Yang
Affiliations

Affiliation

  • 1 Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan. [email protected]
PMID: 15050970 DOI: 10.1016/j.ymgme.2004.01.006
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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