Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency [Supplementary Concept]
mutation in methylmalonyl-CoA mutase gene (MUT); mut(0) is complete enzyme deficiency; mut(-) is partial enzyme deficiency.
Date introduced: November 5, 2012
MeSH Unique ID: C565390
Heading Mapped to:
Entry Terms:
- Methylmalonic Acidemia due to Methylmalonyl-CoA Mutase Deficiency
- Methylmalonic Aciduria, MUT Type
- MMA due to MCM Deficiency
- Methylmalonic Aciduria, mut(0) Type
- Methylmalonic Aciduria, mut(-) Type