📂 الأمراض
AICA-ribosiduria — التعريف
AICA-ribosidüri / AICA-ribosiduria
AICA-ribosiduri is a rare genetic disease caused by a lack of enzyme in the metabolism of purin. This situation leads to the accumulation of a metabolite called AICA-ribosid in the body and the removal of urine. Clinically characterized by neurological development backrest, epilepsy, hypotoni and dysmorphic facial properties. The disease shows autozomal resessive inheritance and starts to give symptoms in early child.
تعريف المرض
🔬 تعريف المرض
AICA-ribosiduria, purin metabolizmasının nadir bir kalıtsal bozukluğudur. AICA ribosid (5-aminoimidazol-4-karboksamid ribosid) birikimi ile karakterizedir.
🧬 الأسباب وعوامل الخطر
ATASE genindeki mutasyonlar nedeniyle oluşur. Otozomal resesif geçişlidir.
🩺 الأعراض والعلامات
Gelişimsel gecikme, zihinsel yetersizlik, nöbetler, hipotoni, dismorfik yüz özellikleri, büyüme geriliği.
📋 طرق التشخيص
İdrar organik asit analizi, plazma AICA ribosid seviyeleri, genetik test (ATASE geni).
💊 خيارات العلاج
Spesifik bir tedavisi yoktur. Semptomatik ve destekleyici tedavi uygulanır. Düşük purin diyeti, riboflavin takviyesi düşünülebilir.
⚠️ المضاعفات
Nörolojik hasar, epilepsi, enfeksiyon riski, beslenme sorunları.
الأسئلة الشائعة
❓ ما هو AICA-ribosidüri؟
AICA-ribosidüri; aICA-ribosiduri is a rare genetic disease caused by a lack of enzyme in the metabolism of purin. This situation leads to the accumulation of a metabolite called AICA-ribosid in the body and the removal of urine. Clinically characterized by neurological development backrest, epilepsy, hypotoni and dysmorphic facial properties. The disease shows autozomal resessive inheritance and starts to give symptoms in early child.
❓ ما معنى AICA-ribosiduria بالتركية؟
المعادل التركي لـ "AICA-ribosiduria" هو AICA-ribosidüri.
❓ ما هو المجال الطبي الذي يتعلق بـ AICA-ribosidüri؟
هذا المصطلح ينتمي إلى فئة الأمراض.