MeSH Browser

MeSH Supplementary: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Unique ID: C565390
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C565390
Entry Term(s): MMA due to MCM Deficiency; Methylmalonic Acidemia due to Methylmalonyl-CoA Mutase Deficiency; Methylmalonic Aciduria, MUT Type; Methylmalonic Aciduria, mut(-) Type; Methylmalonic Aciduria, mut(0) Type
Registry Number: 0
Heading Mapped to: *Amino Acid Metabolism, Inborn Errors; Methylmalonyl-CoA Mutase / *deficiency
Frequency: 4
Note: mutation in methylmalonyl-CoA mutase gene (MUT); mut(0) is complete enzyme deficiency; mut(-) is partial enzyme deficiency.
Date of Entry: 2012/11/05
Revision Date: 2013/11/06

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency MeSH Supplementary Concept Data 2024