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An Infant Case of Citrin Deficiency with Corresponding Biochemical Features and a Heterozygous SLC25A13 Mutation  

Kang, Su Min (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine)
Chi, Yang Hyun (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine)
Lee, Jun Hwa (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.15, no.3, 2015 , pp. 155-159 More about this Journal
Abstract
Citrin deficiency (OMIN #605814) is an autosomal recessive disorder caused by the SLC25A13 gene mutation with abnormal biochemical findings, including increased serum ammonia, citrulline, arginine, galactose, serum threonine-to-serine ratio, serum pancreatic secretory trypsin inhibitor, and alpha-fetoprotein. Citrin deficiency can manifest in three ways: in newborns as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as citrullinemia type 2 (CTLN2) with recurrent hyperammonemia and neuropsychiatric symptoms. We report a 35-day-old asymptomatic patient with citrin deficiency who had abnormal biochemical findings.
Keywords
Citrin; Neonatal intrahepatic cholestasis caused by citrin deficiency; SLC25A13;
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