MCCC2-related 3-Methylcrotonyl-CoA carboxylase deficiency

Synonym(s)
- 3-Methylcrotonylglycinuria type 2
Type

Disease
External link(s)
- IEMbase
- VMH
Gene
- MCCC2 / methylcrotonoyl-CoA carboxylase 2
  5q13.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methylcrotonoyl-CoA carboxylase subunit beta, mitochondrial
Multimer
- 3-Methylcrotonyl-CoA carboxylase
Pathway
- Branched-chain amino acid metabolism
Parent entry
- 3-Methylcrotonyl-CoA carboxylase deficiency