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Dergiler / Akdeniz Tıp Dergisi / 2026 / Cilt: 12 Sayı: 1

Biyotinidaz Eksikliği Olan Hastaların Klinik, Biyokimyasal ve Moleküler Genetik Analizlerinin Değerlendirilmesi

Evaluation of Clinical, Biochemical and Molecular Genetic Analyses of the Patients with Biotinidase Deficiency

Pembe Soylu Üstkoyuncu(SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, KAYSERİ SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ)0000-0001-9867-1280
Songül Gökay(SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, KAYSERİ SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ)0000-0003-3845-8431
Murat Erdoğan(SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, KAYSERİ SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ)0000-0001-8768-4457
Sayfa
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Yayın Tarihi
2026-06-05
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Bulgular: Biyotinidaz eksikliği olan 33 hastada (%36,7) BTD geninde c.1270G>C (p.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:ÖZ Amaç: Biyotinidaz eksikliği, biyotin döngüsünün kalıtsal bir hastalığıdır.
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Temel Bulgular & Veri:Bu çalışmanın amacı, biotinidaz eksikliği olan hastaların klinik, biyokimyasal ve genetik analizlerini değerlendirmek ve genotip-fenotip korelasyonunu yapmaktır.
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Sonuç & Katkı:Bulgular: Biyotinidaz eksikliği olan 33 hastada (%36,7) BTD geninde c.1270G>C (p.
🔬Tür:Laboratuvar & Saha Deneyi
📍Kapsam:2018 · 33 hasta
⚙️Değişkenler:Biyotinidaz eksikliği · Çocuk · Mutasyon

Özet

ÖZ Amaç: Biyotinidaz eksikliği, biyotin döngüsünün kalıtsal bir hastalığıdır. Bu çalışmanın amacı, biotinidaz eksikliği olan hastaların klinik, biyokimyasal ve genetik analizlerini değerlendirmek ve genotip-fenotip korelasyonunu yapmaktır. Gereç ve Yöntemler: Temmuz 2018-Aralık 2023 tarihleri arasında 90 biyotinidaz eksikliği tanısıyla takip edilen hastaların klinik, laboratuvar ve moleküler genetik analizleri retrospektif olarak değerlendirildi. Bulgular: Biyotinidaz eksikliği olan 33 hastada (%36,7) BTD geninde c.1270G>C (p. Asp424His) homozigot mutasyonu tespit edildi. On iki hastada (%13,3) c.410G>A (p. Arg137His) /c.1270G>C (p. Asp424His) bileşik heterozigot mutasyon tespit edildi. [c.1270G>C (p. Asp424His) mutasyonu olan hastalarda diğer sık görülen mutasyonlara kıyasla daha yüksek biyotinidaz aktiviteleri gözlendi. Sonuç: Çalışmamızda BTD geninde saptanan mutasyonların sıklığı literatürle uyumlu bulundu. Biyotinidaz eksikliği olan hastalarda tanının kesin olarak genetik analizle doğrulanması ve diğer aile bireylerinin araştırılması gerekmektedir.

Abstract

ABSTRACT Objective: Biotinidase deficiency is a hereditary disorder of the biotin cycle. The aim of this study is to evaluate the clinical, biochemical, and genetic findings in patients with biotinidase deficiency and to establish a genotype–phenotype correlation. Materials and Methods: Clinical, laboratory and molecular genetic analyses of the patients with 90 biotinidase deficiency between July 2018 and December 2023 were retrospectively evaluated. Results: c.1270G>C (p. Asp424His) homozygous mutation was detected in the BTD gene in 33 (36.7%) patients with biotinidase deficiency. c.410G>A (p. Arg137His)/c.1270G>C (p. Asp424His) compound heterozygous mutation in 12 (13.3%) patients. Patients with [c.1270G>C (p. Asp424His) mutation had higher biotinidase activities compared with other frequently detected mutations. Conclusion: The frequency of mutations detected in the BTD gene in our study was consistent with the literature. The diagnosis must be definitively confirmed by genetic analysis and other family members must be investigated in patients with biotinidase deficiency.

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Bu Makaleye Atıf Yap

Üstkoyuncu, P. S., Gökay, S., Erdoğan, M. (2026). Biyotinidaz Eksikliği Olan Hastaların Klinik, Biyokimyasal ve Moleküler Genetik Analizlerinin Değerlendirilmesi. Akdeniz Tıp Dergisi, Cilt: 12 Sayı: 1. https://doi.org/10.53394/akd.1663498

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