title: CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE.
abstract: We report the first Turkish patient with citrin deficiency detected incidentally by phenylketonuria screening. Mild cholestasis, increased α-fetoprotein level, aminoacidemia including citrulline and coagulation disorder suggested citrin deficiency. Screening the SLC25A13 gene revealed compound heterozygosity harboring a novel mutation, c.851-854delGTAT (p.M285Pfs*2)/ p.I290T (c.869T>C). Progression to type II citrullinemia was considered due to hyperammonemia episodes resulting from high carbohydrate/low protein diet. High protein/low carbohydrate diet resulted in cessation of hyperammonemia episodes, reversal of hepatic dysfunction and steatohepatitis. Our report illustrates the importance of awareness on citrin deficiency.
authors: A C Aktuglu
authors: AC
authors: Zeybek
authors: E
authors: E
authors: Kiykim
authors: T
authors: T
authors: Zubarioglu
authors: M S
authors: MS
authors: Cansever
authors: S
authors: S
authors: Ceylaner
authors: T
authors: T
authors: Erkan
mesh_terms: D002135:Calcium-Binding Proteins / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D006801:Humans; D033162:Incidental Findings; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D027361:Organic Anion Transporters / Q000172:deficiency* / Q000235:genetics; D010661:Phenylketonurias / Q000235:genetics*
chemical_list: D002135:Calcium-Binding Proteins; D033681:Mitochondrial Membrane Transport Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin