Mevalonic Aciduria
Mevalonic Aciduria is a rare genetic disorder caused by a deficiency in the enzyme mevalonate kinase. This enzyme is crucial for the production of cholesterol and other important molecules in the body. Individuals with this condition cannot properly break down mevalonic acid, leading to its accumulation in the urine and various health issues.
Symptoms of Mevalonic Aciduria can include developmental delays, muscle weakness, and recurrent infections. Diagnosis typically involves urine tests to detect elevated levels of mevalonic acid. Treatment focuses on managing symptoms and may include dietary changes and supportive therapies to improve quality of life.