Send to

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

Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

Author information

Departments of General Internal Medicine, Section of DNA Diagnostics, Laboratory for Pediatrics and Neurology, University Medical Center St. Radboud, Nijmegen, the Netherlands.


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]

Supplemental Content

Full text links

Icon for HighWire
Loading ...
Support Center