Methylmalonic aciduria, classical

(MMUT-MMA)

Synonym(s)
- MMUT-related methylmalonic aciduria
Type

Disease
External link(s)
Gene
- MMUT / Methylmalonyl-CoA Mutase
  6p12.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methylmalonyl-CoA mutase
Pathway
- Branched-chain amino acid metabolism
Disease group(s)
- 1.2 Organic acidurias
Child entries
- MMUT-related methylmalonic aciduria mut0
- MMUT-related methylmalonic aciduria mut-