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Isolated 3-methylcrotonyl-CoA carboxylase deficiency

Orpha number ORPHA6
Synonym(s) 3-methylcrotonylglycinuria
MCC deficiency
MCCD
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • E71.1
ICD-O -
OMIM
UMLS
  • C0268600
MeSH
  • C535308
MedDRA -
SNOMED CT
  • 124719001
  • 13144005

Summary

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)
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