Beta-1,3-N-acetylgalactosaminiltransferase 2 (B3GALNT2) geni alfa distroglikonopatiler (a-DGP) içinde yer alan ve hastalığa sebep olan genlerden biridir. Distroglikanların O-glukolizasyonundan sorumlu olan tek tip karbonhidrat yapısını oluşturan, nitroasetilgalaktozamin-b-1,3-nitroasetilglukozamini (GalNAc-b-1–3GlcNAc) oluşturan enzimi kodlayan gendir. Bu yazıda çocuk psikiyatri kliniğinde uzun süreler otizm nedeni ile takip edilen, çocuk metabolizma bölümünün de araştırdığı ve sonrasında kas-göz-beyin hastalığının da nadir bir sebebi olan B3GALNT2 gen mutasyonu saptanan iki kardeş vaka sunuldu. Kognitif gerilik özellikle de dil alanında geriliği olan, otizm bulguları bulunan hastalarda kreatin kinaz değerlerine mutlaka dikkat edilmeli ve sınırda olsa yükseklik var ve beyin manyetik rezonans görüntülemede (MRG) lökodistrofik değişiklikler eşlik ediyorsa bu hastalarda Beta-1,3-N-acetylgalactosaminiltransferase 2 (B3GALNT2) gen mutasyonu saptanma olasılığı akılda tutulmalıdır.
Primary Language | Turkish |
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Subjects | Health Care Administration |
Journal Section | Sözlü Bildiriler |
Authors | |
Publication Date | June 30, 2022 |
Submission Date | February 9, 2022 |
Acceptance Date | March 10, 2022 |
Published in Issue | Year 2022 Volume: 15 Issue: (Özel Sayı-1) 21. Mersin Pediatri Günleri Bildiri Kitabı |
MEU Journal of Health Sciences Assoc was began to the publishing process in 2008 under the supervision of Assoc. Prof. Gönül Aslan, Editor-in-Chief, and affiliated to Mersin University Institute of Health Sciences. In March 2015, Prof. Dr. Caferi Tayyar Şaşmaz undertook the Editor-in Chief position and since then he has been in charge.
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