Article
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Neurology - 23 Mar 2004
Simon A, Kremer H P H, Wevers R A, Scheffer H, De Jong J G, Van Der Meer J W M, Drenth J P H
Abstract excerpt
Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-IgD) syndrome, with recurrent fever attacks without neurologic symptoms, are caused by a functional deficiency of mevalonate kinase. In a systematic review of known mevalonate kinase-deficient patients, the authors identified five adults...
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