Orphanet: 3 methylglutaconic aciduria type 1

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 1

Disease definition

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.


Classification level: Disorder
  • Synonym(s):
    • 3-methylglutaconyl-CoA hydratase deficiency
    • 3MG-CoA hydratase deficiency
    • MGA1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.1
  • OMIM: 250950
  • UMLS: C0342727  C0342728
  • MeSH: -
  • GARD: 10321
  • 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.