title: 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.
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.
authors.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
authors.forename: Takeyori
authors.initials: T
authors.lastname: Saheki
authors.forename: Keiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Mikio
authors.initials: M
authors.lastname: Iijima
authors.forename: Masahisa
authors.initials: M
authors.lastname: Horiuchi
authors.forename: Laila
authors.initials: L
authors.lastname: Begum
authors.forename: Md Abdul
authors.initials: MA
authors.lastname: Jalil
authors.forename: Meng Xian
authors.initials: MX
authors.lastname: Li
authors.forename: Yao Bang
authors.initials: YB
authors.lastname: Lu
authors.forename: Miharu
authors.initials: M
authors.lastname: Ushikai
authors.forename: Ayako
authors.initials: A
authors.lastname: Tabata
authors.forename: Mitsuaki
authors.initials: M
authors.lastname: Moriyama
authors.forename: Kwang-Jen
authors.initials: KJ
authors.lastname: Hsiao
authors.forename: Yanling
authors.initials: Y
authors.lastname: Yang
mesh_terms: D000328:Adult; D002135:Calcium-Binding Proteins / Q000172:deficiency*; D020159:Citrullinemia / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D005260:Female; D005787:Gene Frequency; D006505:Hepatitis / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D007564:Japan / Q000453:epidemiology; D008099:Liver / Q000378:metabolism; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics; D008954:Models, Biological; D009154:Mutation; D027361:Organic Anion Transporters / Q000172:deficiency*; D014508:Urea / Q000378:metabolism*
chemical_list: D002135:Calcium-Binding Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin; D014508:Urea