{"id":1498,"date":"2025-05-08T09:34:11","date_gmt":"2025-05-08T06:34:11","guid":{"rendered":"https:\/\/sinatip.com.tr\/?p=1498"},"modified":"2025-05-08T09:48:48","modified_gmt":"2025-05-08T06:48:48","slug":"plasma-acylcarnitine-and-urinary-organic-acid-profiling-for-the-diagnosis-of-fatty-acid-oxidation-disorder-and-organic-acidurias-using-tandem-mass-spectrometry-ms-ms-and-gas-chromatography-tandem-wi","status":"publish","type":"post","link":"https:\/\/sinatip.com.tr\/tr\/plasma-acylcarnitine-and-urinary-organic-acid-profiling-for-the-diagnosis-of-fatty-acid-oxidation-disorder-and-organic-acidurias-using-tandem-mass-spectrometry-ms-ms-and-gas-chromatography-tandem-wi\/","title":{"rendered":"PLAZMA AS\u0130LKARN\u0130T\u0130N VE \u0130DRAR ORGAN\u0130K AS\u0130T PROF\u0130L\u0130, TANDEM K\u00dcTLE SPEKTROMETR\u0130S\u0130 (MS\/MS) VE GAZ KROMATOGRAF\u0130S\u0130 KULLANARAK YA\u011e AS\u0130T OKS\u0130DASYON BOZUKLU\u011eU VE ORGAN\u0130K AS\u0130D\u00dcR\u0130LER\u0130N TANISI \u0130\u00c7\u0130N TANDEM K\u00dcTLE SPEKTROMETR\u0130S\u0130YLE (GC-MS): RETROSPEKT\u0130F B\u0130R \u00c7ALI\u015eMA"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Giri\u015f: Plazma asilkarnitinler (PLAC) ve idrar organik asitleri (UOA), ya\u011f asidi oksidasyon bozukluklar\u0131 (FAOD&#8217;ler) ve organik asit metabolizmas\u0131yla ilgili bozukluklar gibi baz\u0131 Do\u011fu\u015ftan Metabolizma Hatalar\u0131 (IEM) i\u00e7in temel tan\u0131 belirte\u00e7leridir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ama\u00e7: Bu \u00e7al\u0131\u015fma, FIA-MS\/MS ve GC-MS kullanarak IEM riski ta\u015f\u0131yan Filipinli yenido\u011fan bebeklerin PLAC ve UOA profillerini belirlemeyi ama\u00e7lamaktad\u0131r. Ayr\u0131ca, bu \u00e7al\u0131\u015fma FAOD&#8217;lerin ve baz\u0131 organik asid\u00fcrilerin ger\u00e7ek pozitif vakalar\u0131n\u0131 belirleme s\u00fcrecini a\u00e7\u0131klamaktad\u0131r.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Metodoloji: PLAC ve UOA analizleri Waters\u00ae MS\/MS ve Agilent\u00ae GC-MS kullan\u0131larak ger\u00e7ekle\u015ftirildi. Sonu\u00e7lar 2015&#8217;ten 2021&#8217;e kadar Biyokimyasal Genetik Laboratuvar\u0131&#8217;n\u0131n veritabanlar\u0131ndan ve IEM kay\u0131tlar\u0131ndan elde edildi. FAOD&#8217;lerin ve Organik Asid\u00fcrilerin tespit oranlar\u0131n\u0131 de\u011ferlendirmek i\u00e7in tan\u0131mlay\u0131c\u0131 istatistikler kullan\u0131ld\u0131.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sonu\u00e7lar: 2015-2021 y\u0131llar\u0131 aras\u0131ndaki veriler, FAOD&#8217;lar ve organik asid\u00fcriler a\u00e7\u0131s\u0131ndan risk alt\u0131nda taranan 1642 bebekten 176&#8217;s\u0131n\u0131n ger\u00e7ek pozitif oldu\u011funu g\u00f6sterdi. MS\/MS ve GC-MS kullan\u0131m\u0131, FAOD&#8217;lu 104 Filipinli yenido\u011fan bebekte %10,6&#8217;l\u0131k bir tespit oran\u0131 sa\u011flarken, organik asid\u00fcrileri olan 72 bebekte tespit oran\u0131 sa\u011flad\u0131. Orta zincirli asil-CoA dehidrogenaz eksikli\u011finin 67 vaka ile en yayg\u0131n FAOD oldu\u011fu bildirildi. Glutarik asid\u00fcri tip 1 ve 3- gibi organik asid\u00fcriler<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sonu\u00e7: Bu makalede FAOD&#8217;lu ve organik asid\u00fcrileri olan Filipinli yenido\u011fan bebeklerin PLAC ve UOA profilleri sunulmu\u015ftur. Bu \u00e7al\u0131\u015fma, ger\u00e7ek pozitif vakalar\u0131 belirlemek i\u00e7in do\u011frulay\u0131c\u0131 testler y\u00fcr\u00fctmenin \u00f6nemini vurgulamaktad\u0131r. Bu nedenle, bu \u00e7al\u0131\u015fma, IEM&#8217;lerin biyobelirte\u00e7lerinin hedeflenen \u00f6l\u00e7\u00fcmleri i\u00e7in analitik metodolojilerin do\u011frulanmas\u0131 konusunda daha fazla \u00e7al\u0131\u015fmay\u0131 gerektirmektedir. Metilkrotonil-CoA karboksilaz eksikli\u011finin s\u0131ras\u0131yla 34 ve 26 vakada yayg\u0131n oldu\u011fu bulundu.<\/p>\n\n\n\n<div data-wp-interactive=\"core\/file\" class=\"wp-block-file\"><object data-wp-bind--hidden=\"!state.hasPdfPreview\" hidden class=\"wp-block-file__embed\" data=\"https:\/\/sinatip.com.tr\/wp-content\/uploads\/2025\/05\/article-2.pdf\" type=\"application\/pdf\" style=\"width:100%;height:600px\" aria-label=\"PLAZMA AS\u0130LKARN\u0130T\u0130N VE \u0130DRAR ORGAN\u0130K AS\u0130T PROF\u0130L\u0130, TANDEM K\u00dcTLE SPEKTROMETR\u0130S\u0130 (MS\/MS) VE GAZ KROMATOGRAF\u0130S\u0130 KULLANARAK YA\u011e AS\u0130T OKS\u0130DASYON BOZUKLU\u011eU VE ORGAN\u0130K AS\u0130D\u00dcR\u0130LER\u0130N TANISI \u0130\u00c7\u0130N TANDEM K\u00dcTLE SPEKTROMETR\u0130S\u0130YLE (GC-MS): RETROSPEKT\u0130F B\u0130R \u00c7ALI\u015eMA g\u00f6m\u00fcs\u00fc.\"><\/object><a id=\"wp-block-file--media-3f1b8254-1eae-4c01-9d75-c116128cc3d5\" href=\"https:\/\/sinatip.com.tr\/wp-content\/uploads\/2025\/05\/article-2.pdf\">PLAZMA AS\u0130LKARN\u0130T\u0130N VE \u0130DRAR ORGAN\u0130K AS\u0130T PROF\u0130L\u0130, TANDEM K\u00dcTLE SPEKTROMETR\u0130S\u0130 (MS\/MS) VE GAZ KROMATOGRAF\u0130S\u0130 KULLANARAK YA\u011e AS\u0130T OKS\u0130DASYON BOZUKLU\u011eU VE ORGAN\u0130K AS\u0130D\u00dcR\u0130LER\u0130N TANISI \u0130\u00c7\u0130N TANDEM K\u00dcTLE SPEKTROMETR\u0130S\u0130YLE (GC-MS): RETROSPEKT\u0130F B\u0130R \u00c7ALI\u015eMA<\/a><a href=\"https:\/\/sinatip.com.tr\/wp-content\/uploads\/2025\/05\/article-2.pdf\" class=\"wp-block-file__button wp-element-button\" download aria-describedby=\"wp-block-file--media-3f1b8254-1eae-4c01-9d75-c116128cc3d5\">indirmek<\/a><\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Giri\u015f: Plazma asilkarnitinler (PLAC) ve idrar organik asitleri (UOA), ya\u011f asidi oksidasyon bozukluklar\u0131 (FAOD&#8217;ler) ve organik asit metabolizmas\u0131yla ilgili bozukluklar<\/p>\n","protected":false},"author":1,"featured_media":1501,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1498","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-tr"],"_links":{"self":[{"href":"https:\/\/sinatip.com.tr\/tr\/wp-json\/wp\/v2\/posts\/1498","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sinatip.com.tr\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sinatip.com.tr\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sinatip.com.tr\/tr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/sinatip.com.tr\/tr\/wp-json\/wp\/v2\/comments?post=1498"}],"version-history":[{"count":3,"href":"https:\/\/sinatip.com.tr\/tr\/wp-json\/wp\/v2\/posts\/1498\/revisions"}],"predecessor-version":[{"id":1523,"href":"https:\/\/sinatip.com.tr\/tr\/wp-json\/wp\/v2\/posts\/1498\/revisions\/1523"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sinatip.com.tr\/tr\/wp-json\/wp\/v2\/media\/1501"}],"wp:attachment":[{"href":"https:\/\/sinatip.com.tr\/tr\/wp-json\/wp\/v2\/media?parent=1498"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sinatip.com.tr\/tr\/wp-json\/wp\/v2\/categories?post=1498"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sinatip.com.tr\/tr\/wp-json\/wp\/v2\/tags?post=1498"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}