Disorders of Purine metabolism.
Key Concept (Easy Explanation): Purine metabolism involves the synthesis and breakdown of purines (like adenine and guanine) for DNA/RNA and energy (ATP). Disorders arise from enzyme defects, leading to buildup of toxic byproducts like uric acid. These are often genetic and cause symptoms like joint pain or neurological issues.
Main Disorders with Real Data:
Gout: Caused by excess uric acid (hyperuricemia) due to overproduction or underexcretion of purines. Real data: Affects ~4% of adults in the US (higher in men); symptoms include painful arthritis in big toe. Treated with allopurinol (inhibits xanthine oxidase).
Lesch-Nyhan Syndrome: Rare X-linked disorder from HGPRT enzyme deficiency, leading to uric acid buildup. Real data: Prevalence ~1 in 380,000 births; causes self-mutilation, intellectual disability, and gout-like symptoms. No cure, but symptom management possible.