Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.

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dc.contributor.authorWasant, Pornswanen_US
dc.contributor.authorViprakasit, Vipen_US
dc.contributor.authorSrisomsap, Chantraganen_US
dc.contributor.authorLiammongkolkul, Sompornen_US
dc.contributor.authorRatanarak, Pisanuen_US
dc.contributor.authorSathienkijakanchai, Acharaen_US
dc.contributor.authorSvasti, Jisnusonen_US
dc.date.accessioned2009-05-27T14:41:19Z
dc.date.available2009-05-27T14:41:19Z
dc.date.issued2005-05-30en_US
dc.descriptionThe Southeast Asian Journal of Tropical Medicine and Public Health.en_US
dc.description.abstractRemarkable 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.en_US
dc.description.affiliationDivision of Medical Genetics, Department of Pediatrics, Siriraj Hospital, Faculty of Medicine, Mahidol University, Bangkok, Thailand. sipws@mahidol.ac.then_US
dc.identifier.citationWasant 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): 757-61en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/30811
dc.language.isoengen_US
dc.source.urihttps://www.tm.mahidol.ac.th/seameo/2005_36_3/37-3552.pdfen_US
dc.subject.meshArgininosuccinate Synthase --deficiencyen_US
dc.subject.meshCitrullinemia --diagnosisen_US
dc.subject.meshComorbidityen_US
dc.subject.meshDNA Mutational Analysisen_US
dc.subject.meshFatal Outcomeen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshMutation --geneticsen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshThailanden_US
dc.subject.meshTreatment Outcomeen_US
dc.titleArgininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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