📂 Diseases
Urocanic aciduria — Definition
Ürokanik asidüri / Urocanic aciduria
Urocanic acid is a rare metabolic disease characterized by accumulation of urocanic acid in the body. This condition is caused by the deficiency of urokanase enzyme, which is tasked on the normal destruction of the amino acid of the hytidine. In patients often increased levels of urocanic acid in urine, neurological symptoms and growth retardation are observed. The diagnosis is subject to biochemical tests and genetic analysis, while the treatment is in the forefront of diet restrictions and symptom management.
Disease Definition
🔬 Disease Definition
Urocanic aciduria, histidin metabolizmasında rol oynayan urokanaz enziminin eksikliği sonucu ortaya çıkan nadir bir otozomal resesif metabolik hastalıktır. Bu durum, idrarda ve vücut sıvılarında urokanik asit birikimine yol açar.
🧬 Causes & Risk Factors
Urokanaz enzimini kodlayan UROC1 genindeki mutasyonlar hastalığa neden olur. Otozomal resesif kalıtım gösterir.
🩺 Symptoms & Signs
Genellikle asemptomatik seyreder; ancak bazı hastalarda hafif gelişimsel gecikme, nörolojik semptomlar veya cilt bulguları (örneğin fotosensitivite) görülebilir.
📋 Diagnostic Methods
Tanı, idrarda urokanik asit seviyelerinin yüksek bulunması ve genetik testlerle UROC1 gen mutasyonlarının saptanması ile konur.
💊 Treatment Options
Spesifik bir tedavisi yoktur. Düşük histidin içeren diyet ve semptomatik destek tedavisi uygulanabilir.
⚠️ Complications
Nörolojik gelişim geriliği, fotosensitivite ve nadiren metabolik krizler.
Frequently Asked Questions
❓ What is Ürokanik asidüri?
Ürokanik asidüri; urocanic acid is a rare metabolic disease characterized by accumulation of urocanic acid in the body. This condition is caused by the deficiency of urokanase enzyme, which is tasked on the normal destruction of the amino acid of the hytidine. In patients often increased levels of urocanic acid in urine, neurological symptoms and growth retardation are observed. The diagnosis is subject to biochemical tests and genetic analysis, while the treatment is in the forefront of diet restrictions and symptom management.
❓ What is Urocanic aciduria in Turkish?
The Turkish equivalent of "Urocanic aciduria" is Ürokanik asidüri.
❓ Which medical field is Ürokanik asidüri related to?
This term belongs to the Diseases category.