title: Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids.
abstract: In an infant who suffered from prolonged icterus and hepatocellular dysfunction we detected an increase of citrulline and dibasic amino acids in plasma and urine. The amino acid levels along with all the abnormal liver tests normalized upon replacing breast-milk by formula feeding; there was no relapse after human milk was tentatively reintroduced. A novel mutation, a approximately 9.5-kb genomic duplication, was identified in the citrin gene (SLC25A13) resulting in the insertion of exon 15. No mutation was detected in the CAT2A specific exon of the SLC7A2 gene which encodes for the liver transporter of cationic amino acids. This is the first report of infantile citrin deficiency in non-Asian patients.
authors.affiliation: The Metabolic Disease Unit, Faculty of Medicine, Shaare-Zedek Medical Center, Hebrew University, Jerusalem, Israel.
authors.forename: Efrat
authors.initials: E
authors.lastname: Ben-Shalom
authors.forename: Keiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Avraham
authors.initials: A
authors.lastname: Shaag
authors.forename: Tomotsugu
authors.initials: T
authors.lastname: Yasuda
authors.forename: Hong-Zhi
authors.initials: HZ
authors.lastname: Gao
authors.forename: Takeyori
authors.initials: T
authors.lastname: Saheki
authors.forename: Claude
authors.initials: C
authors.lastname: Bachmann
authors.forename: Orly
authors.initials: O
authors.lastname: Elpeleg
mesh_terms: D000599:Amino Acids, Diamino / Q000378:metabolism*; D020159:Citrullinemia / Q000209:etiology*; D018076:DNA, Complementary; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000172:deficiency* / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000172:deficiency* / Q000235:genetics
chemical_list: D000599:Amino Acids, Diamino; D018076:DNA, Complementary; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C119629:SLC25A13 protein, human