Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD)

Mevalonate kinase deficiency (MKD) is a rare hereditary autoinflammatory syndrome, characterized by recurrent fever episodes with gastrointestinal complaints, rash and arthralgia. In patients suffering from MKD, the reduced enzyme activity leads to an accumulation of 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.