ABSTRACT
Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with type I citrullinemia. Metabolic evaluation revealed significant hyperammonemia. Amino acid/acylcarnitine screening using tandem mass spectrometry showed high level of citrulline. Plasma amino acid analysis showed high level of citrulline and the urine organic acid analysis showed makedly increased level of orotic acid. To confirm diagnosis of citrullinemia we did mutation analysis of the ASS1 gene. The patient was found to have mutations of c.689G>C (p.G230A) and c.892G>A (p.E298K), which were new types of argininosuccinate synthetase gene mutation have never been reported in Korea. We report a novel case of argininosuccinate synthetase 1 gene mutation and suggest that the gene study to the family members is necessary to carry out when a patient is diagnosed as citrullinemia.
Subject(s)
Humans , Argininosuccinate Synthase , Citrulline , Citrullinemia , Hyperammonemia , Korea , Mass Screening , Orotic Acid , Plasma , Tandem Mass Spectrometry , UreaABSTRACT
Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with type I citrullinemia. Metabolic evaluation revealed significant hyperammonemia. Amino acid/acylcarnitine screening using tandem mass spectrometry showed high level of citrulline. Plasma amino acid analysis showed high level of citrulline and the urine organic acid analysis showed makedly increased level of orotic acid. To confirm diagnosis of citrullinemia we did mutation analysis of the ASS1 gene. The patient was found to have mutations of c.689G>C (p.G230A) and c.892G>A (p.E298K), which were new types of argininosuccinate synthetase gene mutation have never been reported in Korea. We report a novel case of argininosuccinate synthetase 1 gene mutation and suggest that the gene study to the family members is necessary to carry out when a patient is diagnosed as citrullinemia.
Subject(s)
Humans , Argininosuccinate Synthase , Citrulline , Citrullinemia , Hyperammonemia , Korea , Mass Screening , Orotic Acid , Plasma , Tandem Mass Spectrometry , UreaABSTRACT
PURPOSE: We studied to know the influence of respiratory virus and atopic characteristics on recurrence of virus-induced wheezing in children under 3 years of age. METHODS: Between March 2006 and February 2009, 340 children who were hospitalized with symptoms of sudden onset of dyspnea, cough and wheezing after symptoms of acute upper respiratory tract infection and detected specific respiratory viruses by multiplex RT-PCR were enrolled. The data were analyzed according to age (< or =6, 7-12, 13-24, and 25-36 months) as well as previous wheezing episodes (first or recurrent episode). Respiratory viruses and atopic characteristics were compared among individual groups. RESULTS: The 3 commonly identified viruses were RSV (62.4%), PIV (15.6%) and RV (11.8%). PIV and RV were significantly associated with recurrence, but RSV was not significantly associated with recurrence. Food sensitization, aeroallergen sensitization, elevation of total IgE, history of atopic dermatitis and history of parent asthma were significantly associated with the recurrent episode, but serum eosinophil and passive smoking were not significantly associated with the recurrent episode. CONCLUSION: These findings show that specific respiratory viruses can have different influence on recurrence and that atopy may be a risk factor for recurrence of wheezing, in children under 3 years of age with virus-induced wheezing.