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Mevalonate kinase deficiency

Evidence for a phenotypic continuum

From the Departments of General Internal Medicine (Drs. Simon, van der Meer, and Drenth), Neurology (Drs. Kremer and Wevers), and Gastroenterology (Dr. Drenth), Section of DNA Diagnostics (Dr. Scheffer), and Laboratory for Pediatrics and Neurology (Dr. de Jong), University Medical Center St. Radboud, Nijmegen, the Netherlands.

Address correspondence and reprint requests to Dr. A. Simon, Department of General Internal Medicine, 541, University Medical Center St. Radboud, PO Box 9101, 6500 HB Nijmegen, the Netherlands; e-mail: a.simon{at}aig.umcn.nl

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.

Received August 6, 2003. Accepted in final form November 18, 2003.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the March 23 issue to find the title link for this article.

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