mevalonate kinase deficiency
Mevalonate kinase deficiency is a rare genetic disorder that affects the body's ability to produce certain lipids, specifically cholesterol and isoprenoids. This condition is caused by mutations in the MVK gene, which plays a crucial role in the mevalonate pathway, a metabolic process essential for various cellular functions.
Individuals with mevalonate kinase deficiency may experience a range of symptoms, including recurrent fevers, skin rashes, and joint pain. The severity of the condition can vary widely, with some individuals having mild symptoms while others may face more serious health challenges. Early diagnosis and management are important for improving quality of life.