| Metadata | |
|---|---|
| ID | DOID:0060740 |
| Name | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Definition | A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. https://www.ncbi.nlm.nih.gov/pubmed/1975493, https://www.ncbi.nlm.nih.gov/pubmed/1977311 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency [EXACT] methylmalonic aciduria mut type [EXACT] vitamin B12-unresponsive methylmalonic aciduria [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |