{"id":3336,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/cpt2-deficiency-az\/"},"modified":"2026-05-02T05:14:22","modified_gmt":"2026-05-02T05:14:22","password":"","slug":"cpt2-deficiency-az","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/az\/docs\/cpt2-deficiency-az\/","title":{"rendered":"Karnitin Palmitoil Transferaza 2 \u00c7at\u0131\u015fmazl\u0131\u011f\u0131"},"content":{"rendered":"

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Karnitin Palmitoil Transferaza 2 (CPT2) \u00c7at\u0131\u015fmazl\u0131\u011f\u0131.<\/strong> CPT2 genind\u0259ki mutasyalardan qaynaqlanan otozomal resessiv ya\u011f tur\u015fusu oksidasiya poz\u011funlu\u011fu. \u00dc\u00e7 klinik forma: \u00f6l\u00fcmc\u00fcl neonatal, infantil hepatik v\u0259 yetkin \u0259z\u0259l\u0259 (uzun m\u0259\u015fq, q\u0131zd\u0131rma v\u0259 ya acl\u0131q t\u0259r\u0259find\u0259n tetikl\u0259n\u0259n mialji, rabdomioliz). Diaqnostika: asilkarnitin profili + CPT2 sekvenslama. \u0130dar\u0259etm\u0259: tetikleyici amill\u0259ri (uzun acl\u0131q, intensiv m\u0259\u015fq) qa\u00e7\u0131nmaq, az-ya\u011fl\u0131\/y\u00fcks\u0259k-karbohidratl\u0131 p\u0259hriz, MCT \u0259lav\u0259l\u0259ri, x\u0259st\u0259lik zaman\u0131 IV ql\u00fckoza.<\/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":"

Karnitin Palmitoil Transferaza 2 (CPT2) \u00c7at\u0131\u015fmazl\u0131\u011f\u0131. CPT2 genind\u0259ki mutasyalardan qaynaqlanan otozomal resessiv ya\u011f tur\u015fusu oksidasiya poz\u011funlu\u011fu. \u00dc\u00e7 klinik forma: \u00f6l\u00fcmc\u00fcl neonatal, infantil hepatik v\u0259 yetkin \u0259z\u0259l\u0259 (uzun m\u0259\u015fq, q\u0131zd\u0131rma v\u0259 ya acl\u0131q t\u0259r\u0259find\u0259n tetikl\u0259n\u0259n mialji, rabdomioliz). Diaqnostika: asilkarnitin profili + [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[205],"doc_tag":[],"class_list":["post-3336","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetik-testler-az"],"aioseo_notices":[],"year_month":"2026-05","word_count":425,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/az\/author\/admin\/"},"doc_category_info":[{"term_name":"Genoks GDHM Genetik Testl\u0259r","term_url":"https:\/\/genoks.com.tr\/az\/docs-category\/genoks-gdhm-genetik-testler-az\/"}],"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