title: First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.
abstract: Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in newborns, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) in older children, and recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2) in adults. NICCD presents in the first few weeks of life with cholestatic hepatitis syndrome, multiple aminoacidemia and hypergalactosemia. To date almost all reported patients were from East Asia and only few cases from Caucasian origin have been described. We report the first Bulgarian case of NICCD. Mutation screening of the SLC25A13 gene revealed the compound heterozygous mutations c.1081C>T (p.R361*) and c.74C>A (p. A25E) which confirmed the diagnosis of NICCD. The nonsense mutation c.1081C>T (p.R361*) is novel.
authors.forename: D M
authors.initials: DM
authors.lastname: Avdjieva-Tzavella
authors.forename: M B
authors.initials: MB
authors.lastname: Ivanova
authors.forename: T P
authors.initials: TP
authors.lastname: Todorov
authors.forename: A P
authors.initials: AP
authors.lastname: Todorova
authors.forename: E I
authors.initials: EI
authors.lastname: Panteleeva
authors.forename: S S
authors.initials: SS
authors.lastname: Tincheva
authors.forename: E A
authors.initials: EA
authors.lastname: Lazarova
authors.forename: H M
authors.initials: HM
authors.lastname: Kathom
authors.forename: P G
authors.initials: PG
authors.lastname: Yaneva
authors.forename: R S
authors.initials: RS
authors.lastname: Tincheva
mesh_terms: D001120:Arginine / Q000097:blood; D002031:Bulgaria; D002135:Calcium-Binding Proteins / Q000172:deficiency*; D002956:Citrulline / Q000097:blood; D020159:Citrullinemia / Q000097:blood / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D005690:Galactose / Q000008:administration & dosage; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008715:Methionine / Q000097:blood; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D027361:Organic Anion Transporters / Q000172:deficiency*; D010641:Phenotype; D011247:Pregnancy; 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; D001120:Arginine; D008715:Methionine; D005690:Galactose