Please use this identifier to cite or link to this item: http://hdl.handle.net/11455/60452
標題: Genetic mutation profile of isovaleric acidemia patients in Taiwan
作者: Lin, W.D.
賴建成
Wang, C.H.
Lee, C.C.
Lai, C.C.
Tsai, Y.
Tsai, F.J.
關鍵字: isovaleric acidemia
gene mutation
tandem mass spectrometry
tandem mass-spectrometry
coa dehydrogenase-deficiency
acyl-coenzyme-a
leucine metabolism
valine metabolism
inborn-errors
swiss-model
isoleucine
homology
defect
期刊/報告no:: Molecular Genetics and Metabolism, Volume 90, Issue 2, Page(s) 134-139.
摘要: Isovaleric acidemia (IVA), a rare recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. IVA may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting, and altered mental status. With the help of newborn screening (NBS) by tandem mass spectrometry (MS/MS), IVA can now be diagnosed presymptornatically. According to statistic data, the incidence of IVA in Taiwan was about 1/365,000. In this study, six IVA patients from five families were investigated and to flowed-up clinically. As for the timing, two patients were found before MS technique introduced to Taiwan, the others were identified after MS/MS applied to NBS. The blood level of C5-carnitine in our patients was 7.43-18.96 mu M (with upper limit in our laboratory < 0.51 PM) and all of their urines contained raised amounts of 3-hydrixyisovaleric acid and isovalerylglycine. Molecular analysis of their IVD gene revealed six mutation profiles, among which the 149G -> A (Arg2l His) and H 74 C ->. T (Arg363Cys) mutations have been reported previously, while the other four mutations, 386A -> G (His100Arg), 347C -> T (Ser87Phe), 1007G -> A (Cys307Tyr) and 1199A -> G (Tyr371Cys), were first reported. Specially, we found 1199A -> G (Tyr371Cys) mutated was a common recurring missense mutation in our population (4 in 10 mutant alleles). (c) 2006 Elsevier Inc. All rights reserved.
URI: http://hdl.handle.net/11455/60452
ISSN: 1096-7192
文章連結: http://dx.doi.org/10.1016/j.jmgme.2006.08.011
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