Mevalonate Aciduria (MA), Mevalonate Kinase Deficiency-severe
Mevalonate Kinase Deficiency (MKD)
Mostly of Dutch descent, or Northern European. 
Unknown, but very rare. <100 known patients worldwide. 
Timing of symptoms:
4-5 days. Recurrent flares with fevers every 2-3 weeks. Patients have chronic inflammation noted between flares. 
Age of onset:
Most present with symptoms at birth, or in early infancy. Most have facial features noted at birth. 
Fevers with flares. Microcephaly, dolichocephaly, intellectual disability, cognitive and/or developmental delays, cerebellar ataxia, cerebellar atrophy and seizures (epilepsy) often develop over time.  Patients with Mevalonate Kinase Deficiencies can have flares triggered by vaccines.
Uveitis, central cataracts, blue sclerae and tapetoretinal degeneration are often present, even in less severe cases. 
Joints bones muscles cartilage:
Congenital defects are often noted: microcephaly, dolichocephaly, wide irregular fontanels, low set and posteriorly rotated ears, downslanted palpebral fissures. Hypotonia, myopathy, arthralgia, arthritis and failure to thrive are common. 
Not noted. 
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Haas and Hoffmann Orphanet Journal of Rare Diseases 2006 1:13 doi:10.1186/1750-1172-1-13
Here is a helpful video overview about difficult to treat MKD by Dr Anna Simon, the leading expert on MKD/HIDS at the 2nd NIH-WRNMMC Symposium on Autoinflammatory and Immunedysregulatory Diseases that the Autoinflammatory Alliance co-sponsored and helped to organize in August 2019:
Visit our MKD page on the Autoinflammatory Alliance website.
Find periodic fever syndrome panels, which test for MA and syndromes with similar symptoms at the same time, at the Genetic Testing Registry (GTR).
Updated February 2020 by Karen Durrant RN, BSN