MCCC1-related 3-Methylcrotonyl-CoA carboxylase deficiency

Synonym(s)
- 3-Methylcrotonylglycinuria type 1
Type

Disease
External link(s)
- IEMbase
- VMH
Gene
- MCCC1 / Methylcrotonoyl-CoA Carboxylase 1
  3q27.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
Multimer
- 3-Methylcrotonyl-CoA carboxylase
Pathway
- Branched-chain amino acid metabolism
Parent entry
- 3-Methylcrotonyl-CoA carboxylase deficiency