A Novel Argininosuccinate Synthetase Gene Mutation in a Korean Family with Type I Citrullinemia
Journal of the Korean Society of Neonatology
;
: 250-253, 2010.
Article
in Korean
| WPRIM
| ID: wpr-134727
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Orotic Acid
/
Argininosuccinate Synthase
/
Plasma
/
Urea
/
Mass Screening
/
Citrulline
/
Citrullinemia
/
Hyperammonemia
/
Tandem Mass Spectrometry
/
Korea
Type of study:
Screening study
Limits:
Humans
Country/Region as subject:
Asia
Language:
Korean
Journal:
Journal of the Korean Society of Neonatology
Year:
2010
Type:
Article
Similar
MEDLINE
...
LILACS
LIS