Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.

摘要: A 16-month old boy was referred to our hospital for evaluation of recurrent generalized tonic clonic seizures. Metabolic revealed significant hyperammonemia (1,112 microg/dl). Amino acid/acylcarnitine screening using tandem mass spectrometry showed markedly increased plasma levels citrulline (1,350 microM/l) with undetectable arginine and arginosuccinic acid. Urinary excretion (38,617 microM/g creatinine). Brain MRI findings diffuse high-signal intensity lesions, that involved gray white matter in both frontal lobes insula edematous changes; these were consistent the acute stage citrullinemia (CTLN). Mutation analysis argininosuccinate synthetase (ASS) gene, this patient, a Gly324Ser mutation exon 13, 67-bp duplication 15 (c.1128-6_1188dup67). The patient confirmed as having late-onset CTLN1 treated anticonvulsants, lactulose enema, protein restricted diet arginine. Here we describe case by biochemical analyses ASS gene confirmation. This is first report Korean identification.