MCEE-related methylmalonic aciduria

(MCEE-MMA)

Type

Disease
External link(s)
Gene
- MCEE / Methylmalonyl-CoA Epimerase
  2p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methylmalonyl-CoA epimerase
Pathway
- Branched-chain amino acid metabolism
Disease group(s)
- 1.2 Organic acidurias