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 α-fetoprotein level, aminoacidemia including citrulline and coagulation disorder suggested citrin deficiency. Screening the SLC25A13 gene revealed compound heter...

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Bibliographic Details
Published in:	Genetic counseling Vol. 26; no. 4; p. 409
Main Authors:	Zeybek, A C Aktuglu, Kiykim, E, Zubarioglu, T, Cansever, M S, Ceylaner, S, Erkan, T
Format:	Journal Article
Language:	English
Published:	Switzerland 01-01-2015
Subjects:	Calcium-Binding Proteins - deficiency Calcium-Binding Proteins - genetics Child, Preschool Humans Incidental Findings Male Mitochondrial Membrane Transport Proteins - genetics Mutation - genetics Organic Anion Transporters - deficiency Organic Anion Transporters - genetics Phenylketonurias - genetics
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Summary:	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.
ISSN:	1015-8146