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3-methylglutaconic aciduria type 9

Disease Export to PDF
Name:
3-methylglutaconic aciduria type 9
Description:
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.
ORPHAcode:
505216
Synonyms:
3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
MGA9
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
TIMM50
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14