mevalonate kinase deficiency

Mevalonate kinase deficiency is a rare genetic disorder affecting the body's ability to produce certain molecules vital for cell function, growth, and immune response. It results from mutations in the MVK gene, leading to reduced activity of the mevalonate kinase enzyme. Symptoms vary widely and can include recurring fevers, skin rashes, joint pain, and developmental issues. The severity ranges from mild to severe, sometimes causing life-threatening complications. The condition disrupts normal metabolic pathways, affecting multiple systems in the body, and requires medical management to control symptoms and prevent complications.