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KMID : 0918520150150030155
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Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 3 p.155 ~ p.159
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An Infant Case of Citrin Deficiency with Corresponding Biochemical Features and a Heterozygous SLC25A13 Mutation
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Kang Su-Min
Chi Yang-Hyun
Lee Jun-Hwa
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Abstract
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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.
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KEYWORD
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Citrin, Neonatal intrahepatic cholestasis caused by citrin deficiency, SLC25A13
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