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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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