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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.

ORPHA:6

  • 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: -

Additional information

Further information on this disease

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