{"id":3340,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/cpt2-deficiency-sr\/"},"modified":"2026-05-02T05:14:22","modified_gmt":"2026-05-02T05:14:22","password":"","slug":"cpt2-deficiency-sr","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/sr\/docs\/cpt2-deficiency-sr\/","title":{"rendered":"Deficit karnitin-palmitoil transferaze 2"},"content":{"rendered":"

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Deficit karnitin-palmitoil transferaze 2 (CPT2).<\/strong> Autozomno recesivni poreme\u0107aj oksidacije masnih kiselina izazvan mutacijama u CPT2 genu. Tri klini\u010dka oblika: smrtonosni neonatalni, infantilni hepati\u010dni i odrasli mi\u0161i\u0107ni (mialgija, rabdomioliza izazvana produ\u017eenom ve\u017ebom, groznicom ili gladovanjem). Dijagnoza: profil acilkarnitina + CPT2 sekvenciranje. Upravljanje: izbegavanje okida\u010da (produ\u017eeno gladovanje, intenzivna ve\u017eba), niskomasna\/visokougljenohidratna ishrana, MCT suplementacija, IV glukoza tokom bolesti.<\/p>\n

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Karnitin Palmitoil Transferaz 2 Eksikli\u011fi Nedir ?<\/strong><\/p>\n

Karnitin palmitoil transferaz 2 (CPT2) eksikli\u011fi, enerji \u00fcretimi i\u00e7in ya\u011f asitlerinin kullan\u0131lmas\u0131n\u0131 sa\u011flayan bir enzimin eksikli\u011fi nedeniyle ortaya \u00e7\u0131kan bir genetik bozukluktur. Bu durum, \u00f6zellikle egzersiz veya a\u00e7l\u0131k s\u0131ras\u0131nda enerji ihtiyac\u0131 artt\u0131\u011f\u0131nda kaslarda zay\u0131fl\u0131k, kas a\u011fr\u0131s\u0131, karaci\u011fer hasar\u0131 ve di\u011fer metabolik komplikasyonlara neden olabilir.<\/p>\n

CPT2 eksikli\u011fi, otozomal resesif \u015fekilde kal\u0131t\u0131l\u0131r, yani her iki ebeveynden de anormal CPT2 geni al\u0131nmas\u0131 gerekir. CPT2 eksikli\u011fi nadir bir hastal\u0131kt\u0131r ve d\u00fcnya genelindeki insidans\u0131 yakla\u015f\u0131k 1\/60.000 ile 1\/100.000 aras\u0131ndad\u0131r. Hastal\u0131\u011f\u0131n infantil, neonatal ve miyopatik olmak \u00fczere \u00fc\u00e7 formu bulunmaktad\u0131r.\u00a0 Hastal\u0131\u011f\u0131n \u015fiddeti bu formlar aras\u0131nda de\u011fi\u015fkenlik g\u00f6stermektedir.<\/p>\n

CPT2 eksikli\u011fi olan bireylerde, ya\u011f asitlerinin mitokondriye ta\u015f\u0131nmas\u0131n\u0131 sa\u011flayan CPT2 enzimi normal \u015fekilde \u00e7al\u0131\u015fmad\u0131\u011f\u0131ndan, v\u00fccut enerji ihtiyac\u0131n\u0131 kar\u015f\u0131lamak i\u00e7in glikozu kullanmaya ba\u015flar. Bu durum, kas ve karaci\u011ferde ya\u011f birikmesine ve di\u011fer metabolik bozukluklara neden olabilir.<\/p>\n

CPT2 eksikli\u011fi olan bireylerin tedavisi, hastal\u0131\u011f\u0131n ciddiyetine ve semptomlara g\u00f6re de\u011fi\u015febilir. D\u00fc\u015f\u00fck ya\u011f diyeti, karbonhidrat y\u00fcklemesi, s\u0131k beslenme ve uzun s\u00fcreli egzersizden ka\u00e7\u0131nmak, semptomlar\u0131n azalt\u0131lmas\u0131na yard\u0131mc\u0131 olabilir. Ayr\u0131ca, baz\u0131 durumlarda, \u00f6zellikle karaci\u011fer hasar\u0131 varsa, ila\u00e7lar ve destekleyici tedaviler de kullan\u0131labilir.<\/p>\n\n\n\n\n\n\n\n\n
Gen :<\/strong><\/td>\nCPT2<\/td>\n<\/tr>\n
Y\u00f6ntem :<\/strong><\/td>\nT\u00fcm Gen Dizi Analizi<\/td>\n<\/tr>\n
Raporlama S\u00fcresi :<\/strong><\/td>\n6-8 Hafta (+\/- 2 Hafta)<\/td>\n<\/tr>\n
Prenatal\/ Postnatal:<\/strong><\/strong><\/td>\nPostnatal<\/td>\n<\/tr>\n
Gerekli Numune<\/strong>:<\/td>\nEDTA’l\u0131 Kan (2-4 ml)<\/td>\n<\/tr>\n
Saklamama \/ Ta\u015f\u0131ma S\u0131cakl\u0131\u011f\u0131:<\/strong><\/td>\n+ 4C\u00b0\/ + 24C\u00b0<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
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Detayl\u0131 Bilgi Almak \u0130\u00e7in Bize Mesaj Atabilirsiniz.<\/strong><\/p>\n\n\n\n
[contact-form-7 id=“710″ title=“genetik ba\u015fvuru“]<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

Genoks Genetik Hastal\u0131klar De\u011ferlendirme Merkezi T.C. Sa\u011fl\u0131k Bankanl\u0131\u011f\u0131nca denetlenen ve GHDM-SM\/06.15\/01 ruhsat numaras\u0131 ile hizmet veren sa\u011fl\u0131k kurulu\u015fudur. genoks.com.tr web sayfas\u0131nda bulunan bilgiler, genetik de\u011ferlendirme ve\/veya tan\u0131-te\u015fhis ama\u00e7l\u0131 kullan\u0131lmamal\u0131d\u0131r. T\u00fcm i\u00e7erikler bilgilendirme ama\u00e7l\u0131d\u0131r.<\/p>\n","protected":false},"excerpt":{"rendered":"

Deficit karnitin-palmitoil transferaze 2 (CPT2). Autozomno recesivni poreme\u0107aj oksidacije masnih kiselina izazvan mutacijama u CPT2 genu. Tri klini\u010dka oblika: smrtonosni neonatalni, infantilni hepati\u010dni i odrasli mi\u0161i\u0107ni (mialgija, rabdomioliza izazvana produ\u017eenom ve\u017ebom, groznicom ili gladovanjem). Dijagnoza: profil acilkarnitina + CPT2 sekvenciranje. [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[208],"doc_tag":[],"class_list":["post-3340","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetic-tests-sr"],"aioseo_notices":[],"year_month":"2026-05","word_count":402,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/sr\/author\/admin\/"},"doc_category_info":[{"term_name":"\u0413\u0435\u043d\u0435\u0442\u0441\u043a\u0438 \u0442\u0435\u0441\u0442\u043e\u0432\u0438 Genoks GDHM","term_url":"https:\/\/genoks.com.tr\/sr\/docs-category\/genoks-gdhm-genetic-tests-sr\/"}],"doc_tag_info":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t