/3-methylglutaconic aciduria type 3

3-methylglutaconic aciduria type 3

Rare Disease

MONDO:0009787

Also Known As

OPA3 defect3-methylglutaconic aciduria caused by mutation in OPA33-methylglutaconic aciduria type IIICosteff optic atrophy syndromeCosteff syndromeIraqi-Jewish optic atrophy plusMGA3OPA3 3-methylglutaconic aciduriaautosomal recessive optic atrophy plus syndromeautosomal recessive optic atrophy type 3infantile optic atrophy with chorea and spastic paraplegia3-alpha methylglutaconic aciduria type III3-methylglutaconic aciduria, type 33-methylglutaconic aciduria, type IIIIraqi Jewish optic atrophy plusIraqi-Jewish 'optic atrophy plus'MGA type IIIMGA, type 3MGCA3OPA3, autosomal recessiveoptic atrophy 3, autosomal recessiveoptic atrophy infantile with chorea and spastic paraplegiaoptic atrophy plus syndromeoptic atrophy, infantile, with chorea and spastic paraplegia

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.