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Korean Society for Biochemistry and Molecular Biology (생화학분자생물학회)
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Characterization of Late-Onset Citrullinemia 1 in a Korean Patient: Confirmation by Argininosuccinate Synthetase Gene Mutation Analysis

  • Kim, In-Suk (Department of Laboratory Medicine, Gyeongsang National University School of Medicine) ;
  • Ki, Chang-Seok (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Jong-Won (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Mun-Hyang (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Soo-Youn (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2006.02.01
  • Accepted : 2006.04.06
  • Published : 2006.07.31
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Abstract

A 16-month old boy was referred to our hospital for evaluation of recurrent generalized tonic clonic seizures. Metabolic evaluation revealed significant hyperammonemia ($1,112\;{\mu}g/dl$). Amino acid/acylcarnitine screening using tandem mass spectrometry showed markedly increased plasma levels of citrulline ($1,350\;{\mu}M/l$) with undetectable levels of arginine and arginosuccinic acid. Urinary excretion of citrulline was markedly increased ($38,617\;{\mu}M/g$ creatinine). Brain MRI findings showed diffuse high-signal 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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References

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