Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

3-methylglutaconic aciduria type 3

Disease definition

3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.


Classification level: Disorder
  • Synonym(s):
    • 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
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E71.1
  • OMIM: 258501
  • UMLS: C0574084
  • MeSH: C535311
  • GARD: 5663
  • MedDRA: -
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.