Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.
Southeast Asian J Trop Med Public Health
;
2005 May; 36(3): 757-61
Article
Dans Anglais
| IMSEAR
| ID: sea-30811
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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Argininosuccinate synthase
/
Thaïlande
/
Femelle
/
Humains
/
Mâle
/
Nouveau-né
/
Analyse de mutations d'ADN
/
Comorbidité
/
Réaction de polymérisation en chaîne
/
Résultat thérapeutique
Type d'étude:
Étude pronostique
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Southeast Asian J Trop Med Public Health
Année:
2005
Type:
Article
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