{"id":3369,"date":"2025-10-06T05:52:41","date_gmt":"2025-10-06T05:52:41","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/glut1-deficiency-en\/"},"modified":"2026-05-02T05:14:25","modified_gmt":"2026-05-02T05:14:25","password":"","slug":"glut1-deficiency-en","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/en\/docs\/glut1-deficiency-en\/","title":{"rendered":"What is GLUT1 Deficiency Syndrome?"},"content":{"rendered":"\n

GLUT1 Deficiency Syndrome.<\/strong> Autosomal dominant disorder (mostly de novo) caused by SLC2A1 gene mutations, impairing glucose transport across the blood-brain barrier. Clinical features: drug-resistant infantile-onset seizures, microcephaly, developmental delay, ataxia, paroxysmal exercise-induced dyskinesia. Diagnosis: low CSF glucose (CSF\/plasma ratio <0.5) + SLC2A1 sequencing. Treatment: ketogenic diet provides alternative brain energy substrate (ketones) and dramatically improves seizures and cognition.<\/p>\n\n\n\n

GLUT1 Eksikli\u011fi Sendromu Nedir ?<\/h1>\n

GLUT1 Eksikli\u011fi Sendromu Nedir ? SLC2A1 gen mutasyonlar\u0131na ba\u011fl\u0131 olarak ortaya \u00e7\u0131kan n\u00f6rolojik hastal\u0131kt\u0131r. GLUT1 proteini glukozun kan-beyin bariyerinden ge\u00e7erek beyne ula\u015fmas\u0131n\u0131 sa\u011flar. Bu hastal\u0131kta beyne\u00a0 yeterli miktarda glukozun ula\u015fmamas\u0131 sonucu\u00a0n\u00f6rolojik semptomlar ortaya \u00e7\u0131kar.<\/p>\n

GLUT1 eksikli\u011fi sendromu semptomlar\u0131, epilepsi, n\u00f6betler, motor ve konu\u015fma geli\u015fiminde gecikme, ataksi (koordinasyon eksikli\u011fi) ve intellekt\u00fcel fonksiyonlarda bozulma gibi n\u00f6rolojik belirtilerle karakterizedir. Baz\u0131 hastalarda migren, yorgunluk ve davran\u0131\u015f de\u011fi\u015fiklikleri de g\u00f6r\u00fclebilir.GLUT1 eksikli\u011fi sendromunun tedavisi, d\u00fc\u015f\u00fck karbonhidratl\u0131 bir diyete ge\u00e7i\u015f ve bazen keton diyeti uygulamas\u0131d\u0131r. Keton diyeti, ketonlar ad\u0131 verilen alternatif bir enerji kayna\u011f\u0131 kullanarak beynin enerji ihtiyac\u0131n\u0131 kar\u015f\u0131lamaya yard\u0131mc\u0131 olur. Baz\u0131 durumlarda ila\u00e7 tedavisi de kullan\u0131labilir. Erken tan\u0131 ve uygun tedavi ile, bir\u00e7ok insan\u0131n semptomlar\u0131n\u0131n kontrol alt\u0131na al\u0131nabilece\u011fi ve ya\u015fam kalitesinin art\u0131r\u0131labilece\u011fi g\u00f6zlenmi\u015ftir.<\/p>\n\n\n\n

\n\n\n\n\n\n\n\n\n
Gen :<\/strong><\/td>\nSLC2A1<\/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><\/td>\nPostnatal<\/td>\n<\/tr>\n
Gerekli Numune<\/strong>:<\/td>\nEDTA’l\u0131 Kan (2-4 ml)<\/td>\n<\/tr>\n
Saklama \/ Ta\u015f\u0131ma S\u0131cakl\u0131\u011f\u0131:<\/strong><\/td>\n+ 4C\u00b0\/ + 24C\u00b0<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

T\u00fcm genetik testlerimiz “Hasta Onam Formu”<\/strong> ve “KVKK Formu”<\/strong>nun imzalanmas\u0131n\u0131n ard\u0131ndan \u00e7al\u0131\u015f\u0131lmaya ba\u015flan\u0131r.<\/p>\n<\/figure>\n\n\n

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Detayl\u0131 Bilgi Almak \u0130\u00e7in Bize MesajGenoks Genetik Hastal\u0131klar De\u011ferlendirme Merkezi taraf\u0131ndan yap\u0131lan Onkogenoks onkolojik test listesine buradan eri\u015febilirsiniz.<\/a> Atabilirsiniz.<\/p>\n\n\n\n

 <\/p>\n

\"Genoks\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<\/b> ile hizmet veren sa\u011fl\u0131k kurulu\u015fudur. Onkogenoks taraf\u0131ndan payla\u015f\u0131lan bilgiler, hastal\u0131k de\u011ferlendirme ve\/veya tan\u0131-te\u015fhis ama\u00e7l\u0131 kullan\u0131lmamal\u0131d\u0131r.<\/i><\/b> T\u00fcm t\u0131bbi durumlar profesyonel t\u0131bbi de\u011ferlendirme, te\u015fhis ve tedavi gerektirir.<\/b> E\u011fer kanser veya ba\u015fka bir sa\u011fl\u0131k sorunuyla ilgili \u015f\u00fcpheleriniz varsa, derhal uzman hekiminize<\/b> ba\u015fvurmal\u0131s\u0131n\u0131z. Erken te\u015fhis ve tedavi, sa\u011fl\u0131k sorunlar\u0131n\u0131n daha etkili bir \u015fekilde y\u00f6netilmesine yard\u0131mc\u0131 olabilir. Kanser gibi ciddi hastal\u0131klar\u0131n erken a\u015famalarda te\u015fhis edilmesi, tedavi \u015fans\u0131n\u0131 art\u0131rabilir ve ya\u015fam kalitesini iyile\u015ftirebilir.<\/i> Unutmay\u0131n ki kendi kendinize te\u015fhis koymak veya \u00e7evrimi\u00e7i kaynaklara g\u00fcvenmek, sa\u011fl\u0131\u011f\u0131n\u0131za zarar verebilir.<\/b><\/p>\n

Genoks GDHM \u0130leti\u015fim Formu i\u00e7in t\u0131klay\u0131n\u0131z.<\/a><\/strong><\/p>\n

\u0130\u00e7erik Edit\u00f6r\u00fc:<\/b> Sercan Kantarc\u0131 | Telefon:<\/b> +90 505 180 77 48 E-posta:<\/b> sercan.kantarci@genoks.com.tr<\/p>\n

 <\/p>\n

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GLUT1 Deficiency Syndrome. Autosomal dominant disorder (mostly de novo) caused by SLC2A1 gene mutations, impairing glucose transport across the blood-brain barrier. Clinical features: drug-resistant infantile-onset seizures, microcephaly, developmental delay, ataxia, paroxysmal exercise-induced dyskinesia. Diagnosis: low CSF glucose (CSF\/plasma ratio <0.5) [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":671,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[204],"doc_tag":[],"class_list":["post-3369","docs","type-docs","status-publish","has-post-thumbnail","hentry","doc_category-genoks-gdhm-genetic-tests"],"aioseo_notices":[],"year_month":"2026-05","word_count":481,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/en\/author\/admin\/"},"doc_category_info":[{"term_name":"Genoks GDHM Genetic Tests","term_url":"https:\/\/genoks.com.tr\/en\/docs-category\/genoks-gdhm-genetic-tests\/"}],"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