Mevalonic aciduria

A rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

Recurrent fever

Periodic (episodic or recurrent) bouts of fever.


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PMID (PMCID)
24470648
 FEMALE Infant
Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.
Thors VS, Vastert SJ, Wulffraat N, van Royen A, Frenkel J, de Sain-van der Velden M, de Koning TJ.
Pediatrics. 2014;133(2):e461-5.
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive disorder causing 1 of 2 phenotypes, hyperimmunoglobulin D syndrome and mevalonic aciduria, presenting with recurrent fever episodes, often starting in infancy, and sometimes evoked by stress or vaccinations.