Please use this identifier to cite or link to this item: http://hdl.handle.net/11455/60452
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dc.contributor.authorLin, W.D.en_US
dc.contributor.author賴建成zh_TW
dc.contributor.authorWang, C.H.en_US
dc.contributor.authorLee, C.C.en_US
dc.contributor.authorLai, C.C.en_US
dc.contributor.authorTsai, Y.en_US
dc.contributor.authorTsai, F.J.en_US
dc.date2007zh_TW
dc.date.accessioned2014-06-09T05:56:31Z-
dc.date.available2014-06-09T05:56:31Z-
dc.identifier.issn1096-7192zh_TW
dc.identifier.urihttp://hdl.handle.net/11455/60452-
dc.description.abstractIsovaleric 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.en_US
dc.language.isoen_USzh_TW
dc.relationMolecular Genetics and Metabolismen_US
dc.relation.ispartofseriesMolecular Genetics and Metabolism, Volume 90, Issue 2, Page(s) 134-139.en_US
dc.relation.urihttp://dx.doi.org/10.1016/j.jmgme.2006.08.011en_US
dc.subjectisovaleric acidemiaen_US
dc.subjectgene mutationen_US
dc.subjecttandem mass spectrometryen_US
dc.subjecttandem mass-spectrometryen_US
dc.subjectcoa dehydrogenase-deficiencyen_US
dc.subjectacyl-coenzyme-aen_US
dc.subjectleucine metabolismen_US
dc.subjectvaline metabolismen_US
dc.subjectinborn-errorsen_US
dc.subjectswiss-modelen_US
dc.subjectisoleucineen_US
dc.subjecthomologyen_US
dc.subjectdefecten_US
dc.titleGenetic mutation profile of isovaleric acidemia patients in Taiwanen_US
dc.typeJournal Articlezh_TW
dc.identifier.doi10.1016/j.jmgme.2006.08.011zh_TW
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