Wilson's Disease : Copper Metabolism • Causes • Biochemical Manifestations • Treatment • Biochemistry • Dr. Rajesh Tanwar
Wilson’s disease ek autosomal recessive disorder hai caused by mutation in the ATP7B gene, jisme copper ka biliary excretion defective ho jata hai. Is wajah se excess copper liver, brain aur cornea me accumulate hone lagta hai.
🧪 Biochemical Manifestations:
- ️ Ceruloplasmin ↓
- ️ Urinary copper ↑
- ️ Hepatic copper ↑
- ️ Kayser–Fleischer ring present
💊 Treatment:
- Penicillamine & Trientine → copper chelators
Concise Biochemistry Book- https://www.amazon.in/dp/B0G585TB3R
Lecture + University Notes Download- https://drive.google.com/file/d/1jOMIN94zQkPbYBLBcw_07FqxYPlwWFG1/view?usp=drivesdk
