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Mevalonic aciduria

ORPHA29
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
UMLS
  • C0342731
  • C1959626
MeSH
  • D054078
MedDRA
  • 10072219

Summary

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.


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