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3-methylglutaconic aciduria type 9

Disease definition

A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.

ORPHA:505216

Classification level: Disorder
  • Synonym(s):
    • 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
    • MGA9
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: -
  • OMIM: 617698
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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