dc.contributor.author | Kiykim, Ertuğrul | |
dc.contributor.author | CEYLANER, S. | |
dc.contributor.author | Zubarioglu, T. | |
dc.contributor.author | Erkan, T. | |
dc.contributor.author | Zeybek, A. C. Aktuglu | |
dc.contributor.author | Cansever, M. S. | |
dc.date.accessioned | 2021-03-05T13:50:56Z | |
dc.date.available | 2021-03-05T13:50:56Z | |
dc.date.issued | 2015 | |
dc.identifier.citation | Zeybek A. C. A. , Kiykim E., Zubarioglu T., Cansever M. S. , CEYLANER S., Erkan T., "CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE", GENETIC COUNSELING, cilt.26, ss.409-413, 2015 | |
dc.identifier.issn | 1015-8146 | |
dc.identifier.other | av_b42f4766-f579-4eee-b857-1dba6ad08254 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/120000 | |
dc.description.abstract | Citrin deficiency: an infant incidentally detected by phenylketonuria screening with a novel mutation in SLC25A13 gene: We report the first Turkish patient with citrin deficiency detected incidentally by phenylketonuria screening. Mild cholestasis, increased a-fetoprotein level, aminoacidemia including citrulline and coagulation disorder suggested citrin deficiency. Screening the SLC25A13 gene revealed compound heterozygosity harboring a novel mutation, c.851-854de1GTAT (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. | |
dc.language.iso | eng | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Biyoteknoloji | |
dc.subject | BİYOTEKNOLOJİ VE UYGULAMALI MİKROBİYOLOJİ | |
dc.subject | Mikrobiyoloji | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | TIBBİ ETİK | |
dc.subject | Klinik Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | TIP, ARAŞTIRMA VE DENEYSEL | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Temel Tıp Bilimleri | |
dc.subject | Tıp Eğitimi | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Tıbbi Ekoloji ve Hidroklimatoloji | |
dc.subject | Yaşam Bilimleri | |
dc.title | CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE | |
dc.type | Makale | |
dc.relation.journal | GENETIC COUNSELING | |
dc.contributor.department | Intergen Genetic Diseases Diagnosis Center , , | |
dc.identifier.volume | 26 | |
dc.identifier.issue | 4 | |
dc.identifier.startpage | 409 | |
dc.identifier.endpage | 413 | |
dc.contributor.firstauthorID | 80717 | |