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KMID : 0380220060390040400
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Journal of Biochemistry and Molecular Biology
2006 Volume.39 No. 4 p.400 ~ p.405
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Characterization of Late-Onset Citrullinemia 1 in a Korean Patient:Confirmation by Argininosuccinate Synthetase Gene Mutation Analysis
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Kim In-Suk
Ki Chang-Seok
Kim Jong-Won
Lee Mun-Hyang
Jin Dong-Kyu
Lee Soo-Youn
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Abstract
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A 16-month old boy was referred to our hospital for evaluation of recurrent generalized tonic clonic seizures. Metabolic evaluation revealed significant hyperammonemia (1,112 &micor;g/dl). Amino acid/acylcarnitine screening using tandem mass spectrometry showed markedly increased plasma levels of citrulline (1,350 μM/l) with undetectable levels of arginine and arginosuccinic acid. Urinary excretion of citrulline was markedly increased (38,617 μM/g creatinine). Brain MRI findings showed diffuse highsignal intensity lesions, that involved gray and white matter in both frontal lobes and insula with edematous changes; these findings were consistent with the acute stage of citrullinemia (CTLN). Mutation analysis of the argininosuccinate synthetase (ASS) gene, in this patient, showed a Gly324Ser mutation in exon 13, and a 67-bp duplication mutation in exon 15 (c.1128-6_1188dup67). The patient was confirmed as having late-onset CTLN1 and treated with anticonvulsants, lactulose enema, protein restricted diet and arginine. Here we describe a case of late-onset CTLN1 in a patient by biochemical analyses and ASS gene mutation confirmation. This is the first report of a Korean patient with late-onset CTLN1 confirmed by ASS gene mutation identification.
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KEYWORD
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Argininosuccinate synthetase (ASS), Citrullinemia, Hyperammonemia, Mass spectrometry, Mutation, Korean
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