Giriş: N-Asetil Glutamat Sentaz (NAGS) eksikliği en nadir görülen üre siklus defektidir. Klinik olarak kusma, takipne, letarji, nöbet, respiratuvar alkaloz, serebral ödem, amonyak yüksekliği görülür. Tedavide sodyum fenilasetat, sodyum benzoat, arginin, sitrülin, karglumik asit kullanılır. Proteinden kısıtlı diyet uygulanır. Olgu: 38 gebelik haftasında doğan erkek bebek ishal, kusma, hipotonisite nedeni ile takip edildiği dış merkezden tarafımıza sevk edildi. Amonyak yüksekliği, solunumsal alkalozu saptanan hastada üre siklus defekti düşünüldü. Periton diyalizi yapıldı. Sodyum benzoat ve karglumik asit tedavileri başlandı. NAGS gen sonucu NM_153006.3:c.1450T>C p.Trp484Arg homozigot patojenik olarak sonuçlandı. Sonuç: Letarji, hipotoni, konvülsiyon, koma, kusma ile gelen hastalarda amonyak düzeyi 1000 µmol/L üstünde olması, respiratuvar alkaloz eşlik etmesi halinde üre siklus defekti düşünülmelidir.
Primary Language | Turkish |
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Subjects | Health Care Administration |
Journal Section | Poster Bildiriler |
Authors | |
Publication Date | June 30, 2022 |
Submission Date | February 28, 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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