Orphanet: Mevalonic aciduria

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Mevalonic aciduria

Disease definition

A rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.


Classification level: Disorder
  • Synonym(s):
    • Complete mevalonate kinase deficiency
    • MVA
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: E88.8
  • OMIM: 610377
  • UMLS: C0342731  C1959626
  • MeSH: D054078
  • GARD: 3588
  • MedDRA: 10072219

Detailed information


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