title: Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy.
abstract: We report citrin deficiency in a neonatal non-East-Asian patient, the ninth Caucasian reported with this disease. The association of intrahepatic cholestasis, galactosuria, very high alpha-fetoprotein and increased plasma and urine citrulline, tyrosine, methionine and threonine levels suggested citrin deficiency. Identification of a protein-truncating mutation (c.1078C>T; p.Arg360*) in the SLC25A13 gene confirmed the diagnosis. An immediate response to a high-protein, lactose-free, low-carbohydrate formula was observed. Our report illustrates the need for awareness on citrin deficiency in Western countries.
authors.affiliation: Nutrition and Metabolopathies Unit, Hospital La Fe, Valencia, Spain. vitoria_isi@gva.es
authors.forename: Isidro
authors.initials: I
authors.lastname: Vitoria
authors.forename: Jaime
authors.initials: J
authors.lastname: Dalmau
authors.forename: Carmen
authors.initials: C
authors.lastname: Ribes
authors.forename: Dolores
authors.initials: D
authors.lastname: Rausell
authors.forename: Ana María
authors.initials: AM
authors.lastname: García
authors.forename: Javier
authors.initials: J
authors.lastname: López-Montiel
authors.forename: Vicente
authors.initials: V
authors.lastname: Rubio
mesh_terms: D044466:Asian People / Q000235:genetics; D002135:Calcium-Binding Proteins / Q000097:blood / Q000172:deficiency* / Q000235:genetics* / Q000652:urine; D002956:Citrulline / Q000097:blood / Q000652:urine; D004035:Diet Therapy; D006801:Humans; D008715:Methionine / Q000097:blood / Q000652:urine; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D027361:Organic Anion Transporters / Q000097:blood / Q000172:deficiency* / Q000235:genetics* / Q000652:urine; D012383:Romania; D013030:Spain; D013912:Threonine / Q000097:blood / Q000652:urine; D014443:Tyrosine / Q000097:blood / Q000652:urine; D044465:White People / Q000235:genetics
chemical_list: D002135:Calcium-Binding Proteins; D033681:Mitochondrial Membrane Transport Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin; D002956:Citrulline; D013912:Threonine; D014443:Tyrosine; D008715:Methionine
keywords: Aspartate/glutamate antiporter; CTLN2; Citrullinemia type 2; NICCD; Neonatal cholestasis; SLC25A13