Citrin deficiency: An infant incidentally detected by phenylketonuria screening with a novel mutation in SLC25A 13 gene

AKTUĞLU ZEYBEK A. Ç., KIYKIM E., ZÜBARİOĞLU T., CANSEVER M. Ş., CEYLANER S., Erkan T.

Genetic Counseling, vol.26, no.4, pp.409-413, 2015 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 4
  • Publication Date: 2015
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.409-413
  • Keywords: Citrin deficiency, Expanded newborn screening, Novel mutation, Phenylketonuria
  • Lokman Hekim University Affiliated: No

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.851-854delGTAT (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.