{"id":3313,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/biotinidase-deficiency-en\/"},"modified":"2026-05-02T05:14:20","modified_gmt":"2026-05-02T05:14:20","password":"","slug":"biotinidase-deficiency-en","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/en\/docs\/biotinidase-deficiency-en\/","title":{"rendered":"What is Biotinidase Deficiency? What does it Lead to?"},"content":{"rendered":"

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Biotinidase Deficiency.<\/strong> Autosomal recessive metabolic disorder caused by BTD gene mutations, impairing biotin recycling. Untreated, it leads to seizures, hypotonia, alopecia, dermatitis, sensorineural hearing loss, optic atrophy, and developmental delay. Included in many newborn screening programs. Treatment: lifelong oral biotin supplementation (5-10 mg\/day) \u2014 early treatment prevents all symptoms. Diagnosis: enzyme activity assay + BTD sequencing.<\/p>\n

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Biotinidaz Eksikli\u011fi Nedir?<\/strong>
\nBiotinidaz eksikli\u011fi, v\u00fccudun biyotin ad\u0131 verilen bir B vitamini t\u00fcr\u00fcn\u00fc i\u015fleyememesine neden olan bir genetik bozukluktur. Biotinidaz, biyotinin biyolojik olarak kullan\u0131labilir hale d\u00f6n\u00fc\u015ft\u00fcr\u00fclmesine yard\u0131mc\u0131 olan bir enzimdir.<\/p>\n

Biyotin, karbonhidrat, protein ve ya\u011f metabolizmas\u0131 i\u00e7in \u00f6nemlidir ve v\u00fccut taraf\u0131ndan \u00fcretilemez, besinlerden al\u0131nmas\u0131 gerekir. Biotin eksikli\u011fi, cilt d\u00f6k\u00fcnt\u00fcleri, sa\u00e7 d\u00f6k\u00fclmesi, n\u00f6rolojik bozukluklar ve di\u011fer sa\u011fl\u0131k sorunlar\u0131na neden olabilir.<\/p>\n

Biotinidaz eksikli\u011fi, genetik bir bozukluk oldu\u011fundan, genellikle bebeklik veya erken \u00e7ocukluk d\u00f6neminde semptomlar g\u00f6sterir. Semptomlar, deri d\u00f6k\u00fcnt\u00fcleri, sa\u00e7 d\u00f6k\u00fclmesi, n\u00f6betler, kas tonusu kayb\u0131, g\u00f6rme sorunlar\u0131, zay\u0131f b\u00fcy\u00fcme ve geli\u015fme, hipotonik kaslar, ataksi (koordinasyon eksikli\u011fi) gibi \u00e7e\u015fitli n\u00f6rolojik belirtiler olabilir.<\/p>\n

Biotinidaz eksikli\u011fi, genetik ve biyokimyasal testlerle te\u015fhis edilir. Tedavi, biyotin takviyeleri alarak ve biyotin al\u0131m\u0131n\u0131n artt\u0131r\u0131lmas\u0131 yoluyla ger\u00e7ekle\u015ftirilir. Tedaviye erken ba\u015flan\u0131rsa, semptomlar\u0131n \u00e7o\u011fu ortadan kalkabilir ve normal bir ya\u015fam s\u00fcrebilirler.<\/p>\n\n\n\n\n\n\n\n\n
Gen :<\/strong><\/td>\nBTD<\/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
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

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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":"

Biotinidase Deficiency. Autosomal recessive metabolic disorder caused by BTD gene mutations, impairing biotin recycling. Untreated, it leads to seizures, hypotonia, alopecia, dermatitis, sensorineural hearing loss, optic atrophy, and developmental delay. Included in many newborn screening programs. Treatment: lifelong oral biotin [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[204],"doc_tag":[],"class_list":["post-3313","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetic-tests"],"aioseo_notices":[],"year_month":"2026-05","word_count":367,"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