Abstract
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.
Highlights
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
An elevated mevalonic acid excretion is suggestive of MKD
Summary
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. An elevated mevalonic acid excretion is suggestive of MKD. The diagnostic value of this analysis has not been investigated yet and remains unclear
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