{"id":11271,"date":"2025-04-29T09:20:51","date_gmt":"2025-04-29T07:20:51","guid":{"rendered":"https:\/\/www.kliinikum.ee\/yhendlabor\/?page_id=11271"},"modified":"2025-10-29T18:49:18","modified_gmt":"2025-10-29T16:49:18","slug":"karnitiinid-seerumis","status":"publish","type":"page","link":"https:\/\/www.kliinikum.ee\/yhendlabor\/kasiraamat\/ainevahetushaiguste-uuringud\/karnitiinid-seerumis\/","title":{"rendered":"Karnitiinid seerumis"},"content":{"rendered":"\n

Geneetika ja personaalmeditsiini kliinik, laboratoorse geneetika osakond, ainevahetuslabor, tel. 731 9485, www.kliinikum.ee\/geneetika\/<\/a><\/em><\/p>\n\n\n\n

Rasvhapped lagundatakse mitokondriaalses maatriksis beetaoks\u00fcdatsiooni tulemusena ketokehadeks. Neis ainevahetuse etappides osalevad mitmed erinevad ens\u00fc\u00fcmid, mis on spetsiifilised rasvhapete s\u00fcsinikuahela pikkusele. Rasvhapete aktiivvorm on seotud ats\u00fc\u00fcl-koens\u00fc\u00fcm A-ga (ats\u00fc\u00fcl-CoA), mida transporditakse karnitiiniga <\/strong>seotult (ats\u00fc\u00fclkarnitiinid). Erineva pikkusega ats\u00fc\u00fclkarnitiine saab m\u00e4\u00e4rata tandem mass-spektromeetria (MS) anal\u00fc\u00fcsi abil. Ats\u00fc\u00fclkarnitiinide ja vaba karnitiini anal\u00fc\u00fcsi kasutatakse rasvhapete beetaoks\u00fcdatsioonidefektide ja karnitiini ainevahetush\u00e4irete diagnostikas.<\/p>\n\n\n\n

Rasvhapete oks\u00fcdatsioonidefektidele tuleks m\u00f5elda, kui patsiendil esinevad j\u00e4rgmised kliinilised tunnused: h\u00fcpoketootiline h\u00fcpogl\u00fckeemia, maksa d\u00fcsfunktsioon, rabdom\u00fcol\u00fc\u00fcs ja \u00e4ge entsefalopaatia. Kroonilise kulu korral esinevad kasvu- ja kaalupeetus, kardiom\u00fcopaatia, lihash\u00fcpotoonia\/m\u00fcopaatia, perifeerne neuropaatia ja\/v\u00f5i pigmentretiniit.<\/p>\n\n\n\n

Uuritav materjal, selle v\u00f5tmine, saatmine ja s\u00e4ilitamine<\/strong><\/p>\n\n\n\n

<\/td>Katsuti<\/strong><\/td>H\u00fc\u00fcbimisaktivaatori ja geeliga katsuti (punane kork kollase r\u00f5ngaga v\u00f5i kollane kork)<\/td><\/tr>
<\/td>Anal\u00fc\u00fcsitav kogus<\/strong><\/td>0,5\u20131 mL seerumit<\/td><\/tr>
<\/td>S\u00e4ilivus<\/strong><\/td>Seerum toatemperatuuril 72 tundi, 2\u20138 \u00b0C 21 p\u00e4eva ja -20 \u00b0C 60 p\u00e4eva<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

Anal\u00fc\u00fcsi tegemise aeg: <\/strong>t\u00f6\u00f6p\u00e4eviti, uuringu valmimisaeg on kuni neli n\u00e4dalat alates laborisse saabumise kuup\u00e4evast. CITO anal\u00fc\u00fcsi tulemused saab 1\u20132 t\u00f6\u00f6p\u00e4eva jooksul.<\/p>\n\n\n\n

Anal\u00fc\u00fcsimeetod: <\/strong>tandem mass-spektromeetria (MS\/MS)<\/p>\n\n\n\n

Referentsv\u00e4\u00e4rtused<\/strong><\/p>\n\n\n\n

Ats\u00fc\u00fclkarnitiinide ja vaba karnitiini referentsv\u00e4\u00e4rtused s\u00f5ltuvad patsiendi vanusest.  Igale vastusele lisatakse juurde interpretatsioon.<\/p>\n\n\n\n

<\/td>Karnitiin<\/strong><\/td>< 8 a<\/strong><\/td>\u02c3 8 a<\/strong><\/td>\u00dchik<\/strong><\/td><\/tr>
<\/td>C0-karnitiin<\/td>10\u201360<\/td>10\u201360<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C10:1-karnitiin<\/td>0,01\u20130,21<\/td>0,01\u20130,23<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C10-karnitiin<\/td>0,01\u20130,51<\/td>0,01\u20130,64<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C12-karnitiin<\/td>0,01\u20130,19<\/td>0,01\u20130,19<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C14:1-karnitiin<\/td>0,01\u20130,2<\/td>0,01\u20130,19<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C14:2-karnitiin<\/td>< 0,06<\/td>< 0,06<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C14-karnitiin<\/td>0,01\u20130,08<\/td>0,01\u20130,09<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C14OH-karnitiin<\/td>< 0,04<\/td>< 0,03<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C16:1-karnitiin<\/td>0,01\u20130,07<\/td>< 0,07<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C16:1OH-karnitiin<\/td>< 0,03<\/td>< 0,03<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C16-karnitiin<\/td>0,03\u20130,26<\/td>0,03\u20130,22<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C16OH-karnitiin<\/td>< 0,03<\/td>< 0,03<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C18:1-karnitiin<\/td>0,02\u20130,35<\/td>0,03\u20130,3<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C18:1OH-karnitiin<\/td>< 0,03<\/td>< 0,02<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C18:2OH-karnitiin<\/td>0,01\u20130,13<\/td>0,01\u20130,06<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C18-karnitiin<\/td>0,01\u20130,13<\/td>0,01\u20130,14<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C18OH-karnitiin<\/td>< 0,01<\/td>< 0,01<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C2-karnitiin<\/td>3,4\u201329,38<\/td>3,59\u201316,75<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C3-karnitiin<\/td>0,01\u20131,96<\/td>0,11\u20131,02<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C3DC-karnitiin<\/td>0,01\u20130,37<\/td>< 0,30<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C4-karnitiin<\/td>0,03\u20130,79<\/td>0,06\u20130,81<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C4DC-karnitiin<\/td>< 0,08<\/td>< 0,06<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C4OH-karnitiin<\/td>< 0,63<\/td>< 0,14<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C5:1-karnitiin<\/td>< 0,03<\/td>< 0,03<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C5-karnitiin<\/td>< 0,44<\/td>0,03\u20130,25<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C5DC-karnitiin<\/td>0,03\u20130,29<\/td>0,02\u20130,44<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C5OH-karnitiin<\/td>< 0,1<\/td>0,01\u20130,05<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C6-karnitiin<\/td>< 0,18<\/td>0,01\u20130,16<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C8:1-karnitiin<\/td>0,02\u20130,65<\/td>0,03\u20130,67<\/td>\u00b5mol\/L<\/td><\/tr>
<\/td>C8-karnitiin<\/td>< 0,31<\/td>0,01\u20130,36<\/td>\u00b5mol\/L<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

N\u00e4idustus ja kliiniline t\u00e4hendus<\/strong><\/p>\n\n\n\n

Rasvhapete beetaoks\u00fcdatsioonidefektide ja karnitiini ainevahetush\u00e4irete esmane diagnostika. L\u00f5plik diagnoosi kinnitamine toimub ens\u00fc\u00fcmanal\u00fc\u00fcsi ja\/v\u00f5i geenianal\u00fc\u00fcsi abil.<\/p>\n\n\n\n

Koostajad: Kadi K\u00fcnnapas, Karit Reinson
Muudetud 12.02.2024<\/p>\n\n\n\n

<\/p>\n","protected":false},"excerpt":{"rendered":"

Geneetika ja personaalmeditsiini kliinik, laboratoorse geneetika osakond, ainevahetuslabor, tel. 731 9485, www.kliinikum.ee\/geneetika\/ Rasvhapped lagundatakse mitokondriaalses maatriksis beetaoks\u00fcdatsiooni tulemusena ketokehadeks. Neis ainevahetuse etappides osalevad mitmed erinevad ens\u00fc\u00fcmid, mis on spetsiifilised rasvhapete s\u00fcsinikuahela pikkusele. Rasvhapete aktiivvorm on seotud ats\u00fc\u00fcl-koens\u00fc\u00fcm A-ga (ats\u00fc\u00fcl-CoA), mida transporditakse karnitiiniga seotult (ats\u00fc\u00fclkarnitiinid). Erineva pikkusega ats\u00fc\u00fclkarnitiine saab m\u00e4\u00e4rata tandem mass-spektromeetria (MS) anal\u00fc\u00fcsi abil. Ats\u00fc\u00fclkarnitiinide […]<\/p>\n","protected":false},"author":38,"featured_media":0,"parent":7015,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_uag_custom_page_level_css":"","footnotes":""},"class_list":["post-11271","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nKarnitiinid seerumis - \u00dchendlabor<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.kliinikum.ee\/yhendlabor\/kasiraamat\/ainevahetushaiguste-uuringud\/karnitiinid-seerumis\/\" \/>\n<meta property=\"og:locale\" content=\"et_EE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Karnitiinid seerumis - \u00dchendlabor\" \/>\n<meta property=\"og:description\" content=\"Geneetika ja personaalmeditsiini kliinik, laboratoorse geneetika osakond, ainevahetuslabor, tel. 731 9485, www.kliinikum.ee\/geneetika\/ Rasvhapped lagundatakse mitokondriaalses maatriksis beetaoks\u00fcdatsiooni tulemusena ketokehadeks. 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