Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.
Loading...
Files
Date
2005-05-30
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Remarkable improvements in public health, nutrition, hygiene, and availability of medical services in the last 20 years have significantly reduced infant and childhood mortality in Thailand. Therefore, many rare and previously unidentified genetic disorders, which, in the past, usually led to the death of affected infants before a definitive diagnosis, have now been increasingly recognized. Recently, we identified three unrelated patients from Thailand who suffered from citrullinemia, one of five inherited types of urea cycle disorders. All were diagnosed within their first few weeks of life. Biochemical analyses, including plasma amino acid and urine organic acid profiles, are consistent with argininosuccinate synthetase (ASS) deficiency. Extensive mutation study by direct genomic sequencing of ASS demonstrated a homozygous G117S mutation in one patient and homozygous R363W mutations in the other two families.
Description
The Southeast Asian Journal of Tropical Medicine and Public Health.
Keywords
Citation
Wasant P, Viprakasit V, Srisomsap C, Liammongkolkul S, Ratanarak P, Sathienkijakanchai A, Svasti J. Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients. The Southeast Asian Journal of Tropical Medicine and Public Health. 2005 May; 36(3): 757-61