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-methylcrotonyl-CoA carboxylase deficiency

Disease definition

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.


Classification level: Disorder
  • Synonym(s):
    • 3-methylcrotonylglycinuria
    • MCC deficiency
    • MCCD
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E71.1
  • OMIM: 210200  210210
  • UMLS: C0268600
  • MeSH: C535308
  • GARD: 10954
  • 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.