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Neurology. 2004 Mar 23;62(6):994-7.

Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

Author information

1
Departments of General Internal Medicine, Section of DNA Diagnostics, Laboratory for Pediatrics and Neurology, University Medical Center St. Radboud, Nijmegen, the Netherlands. a.simon@aig.umcn.nl

Abstract

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 with phenotypic overlap between these two syndromes, which argues for a continuous spectrum of disease. Mevalonate kinase deficiency should be considered in adult patients with fitting neurologic symptoms, with or without periodic fever attacks.

[Indexed for MEDLINE]

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