Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.
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.
Wasant
Pornswan
P
Division of Medical Genetics, Department of Pediatrics, Siriraj Hospital, Faculty of Medicine, Mahidol University, Bangkok, Thailand. sipws@mahidol.ac.th
Viprakasit
Vip
V
Srisomsap
Chantragan
C
Liammongkolkul
Somporn
S
Ratanarak
Pisanu
P
Sathienkijakanchai
Achara
A
Svasti
Jisnuson
J
D001124:Argininosuccinate Synthase / Q000172:deficiency / Q000235:genetics*; D020159:Citrullinemia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D015897:Comorbidity; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013785:Thailand; D016896:Treatment Outcome
D001124:Argininosuccinate Synthase