3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 3
Definition
3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.
Also known as 3-methylglutaconic aciduria caused by mutation in OPA3, autosomal recessive optic atrophy plus syndrome, autosomal recessive optic atrophy type 3, Costeff optic atrophy syndrome, Costeff syndrome, infantile optic atrophy with chorea and spastic paraplegia, MGA3, OPA3 3-methylglutaconic aciduria — per MONDO