https://scholars.lib.ntu.edu.tw/handle/123456789/526046
標題: | Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese | 作者: | Huang Y.-T. YIN-HSIU CHIEN Yeh H.-Y. Lin S.-J. FRANK LEIGH LU Chou S.-P. Lin J.-M. Chiang S.-H. WUH-LIANG HWU |
公開日期: | 2003 | 卷: | 102 | 期: | 12 | 起(迄)頁: | 851-856 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Background and Purpose: Ornithine transcarbamylase (OTC) deficiency is the most common inherited urea cycle disorder. It is as X-linked semidominant disease with variable severity affecting both males and females. The characteristics and course have not been assessed in Taiwanese. This study analyzed the phenotype and genotype of OTC defeciency in Taiwanese. Methods: During the period from January 1993 to December 2001 inclusive, 8 patients had the diagnosis of OTC deficiency by the criteria of hyperammonemia, hypocitrullinemia, and orotic aciduria. All 10 exons of the OTC gene were analyzed for mutations. Results: Among the 8 cases, 3 belonged to the early-onset group (initial symptoms before or equal to age 28 days) and 5 belonged to the late-onset group (median onset age, 18 months; range, 8 months to 52 years). One case in the former group, and 4 cases in the latter group survived (mean survival, 8.2 years; range, 3 to 16 years). The average time between initial symptoms and diagnosis was 60 months in the late-onset group. Analysis of the OTC genes detected 5 different mutations in 5 patients, including 3 novel mutations: 42delT, 652G>A, and 791C>A. IQ test conducted in 3 patients, revealed low scores (mean, 53; range, 40 to 72). Conclusion: Both early-onset and late-onset cases of OTC deficiency were identified in Taiwanese. The diagnosis was delayed in these patients, and their outcomes were poor. All mutations detected were different and most of them have not been reported in other populations, which may explain the variability of phenotypes in Taiwanese patients. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-2342573701&partnerID=40&md5=a9cec478713c5b2fdcf38eda3d462743 https://scholars.lib.ntu.edu.tw/handle/123456789/526046 |
ISSN: | 0929-6646 | SDG/關鍵字: | 4 phenylbutyric acid; adenine; ammonia; benzoic acid; bucephan; carnitine; citrulline; cytosine; guanine; ornithine carbamoyltransferase; orotic acid; phenylacetic acid; tyrosine; ucephan; aciduria; adolescent; adult; article; child; clinical article; diet supplementation; disease course; disease severity; disorders of amino acid and protein metabolism; exchange blood transfusion; exon; female; gene deletion; gene mutation; genetic analysis; genetic variability; genotype phenotype correlation; hemodialysis; human; hyperammonemia; infant; inheritance; intelligence quotient; male; medical assessment; onset age; outcomes research; peritoneal dialysis; population research; protein restriction; scoring system; survival; symptom; Taiwan; time; X chromosome linkage; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mutation; Ornithine Carbamoyltransferase Deficiency Disease; Phenotype; Taiwan |
顯示於: | 醫學系 |
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