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Isolated 3-methylcrotonyl-CoA carboxylase deficiency

Orpha number ORPHA6
Synonym(s) 3-methylcrotonylglycinuria
MCC deficiency
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
  • E71.1
  • C0268600
  • C535308
MedDRA -


Isolated3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from neonatal onset with severe neurological involvement to asymptomatic adults.

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Detailed information

Summary information
Review article
  • EN (2005,pdf)
Article for general public
  • ES (2011,pdf)
  • FR (2011,pdf)
  • NL (2011,pdf)
  • EN (2011,pdf)
  • PT (2011,pdf)
  • IT (2011,pdf)
  • DE (2011,pdf)
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