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Updated: Jul 26, 2026

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
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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
Summary

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

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