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Mevalonate kinase deficiency: Evidence for a phenotypic continuum

A Simon1, H P H Kremer, R A Wevers

  • 1Departments 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

Neurology
|March 24, 2004
PubMed

Insights

Mevalonate kinase deficiency causes mevalonic aciduria and hyper-immunoglobulin D syndrome. A review found adult patients with overlapping symptoms, suggesting a disease spectrum.

Area of Science:

  • Biochemistry
  • Genetics
  • Immunology

Background:

  • Mevalonic aciduria and hyper-immunoglobulin D syndrome stem from mevalonate kinase deficiency.
  • These conditions present with distinct symptoms: psychomotor retardation and ataxia in mevalonic aciduria, versus recurrent fevers without neurological issues in hyper-IgD syndrome.

Observation:

  • A systematic review identified five adult patients exhibiting phenotypic overlap between mevalonic aciduria and hyper-IgD syndrome.
  • These cases suggest a continuous spectrum of disease rather than distinct entities.

Findings:

  • Mevalonate kinase deficiency manifests across a spectrum in adults.
  • Phenotypic overlap challenges traditional diagnostic separation of these two related disorders.

Implications:

  • Mevalonate kinase deficiency should be considered in adult patients presenting with neurological symptoms, even in the absence of periodic fever attacks.
  • This broadens the diagnostic considerations for adult-onset neurological and inflammatory conditions.

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