Diagnostic value of urinary mevalonic acid excretion in mevalonate kinase deficiency (MKD)

Introduction Mevalonate kinase deficiency (MKD) is a rare hereditary autoinflammatory syndrome, characterized by recurrent fever episodes with gastrointestinal complaints, rash and arthralgia. The deficient mevalonate kinase activity leads to elevated mevalonic acid, which is excreted in the urine. Therefore, an elevated mevalonic acid excretion is suggestive of MKD. However, the diagnostic value of this analysis has not been investigated yet and remains unclear.