3-methylglutaconic aciduria type 9
Synonyms: 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome | MGA9
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
3-methylglutaconic aciduria type 9?
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We are an organization created by parents of children diagnosed with rare forms of Epilepsy and Autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.
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Genetic Epilepsy Team Australia
Collaboration of research and care
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
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