methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Information
- Disease name
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Disease ID
- DOID:0060740
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1975493, url:https\://www.ncbi.nlm.nih.gov/pubmed/1977311]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 |
- Disase is a (Disease Ontology)
- DOID:14749
- Cross Reference ID (Disease Ontology)
- ICD10CM:E71.1
- Cross Reference ID (Disease Ontology)
- MESH:C565390
- Cross Reference ID (Disease Ontology)
- MIM:251000
- Cross Reference ID (Disease Ontology)
- ORDO:27
- Exact Synonym (Disease Ontology)
- methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
- Exact Synonym (Disease Ontology)
- methylmalonic aciduria mut type
- Exact Synonym (Disease Ontology)
- vitamin B12-unresponsive methylmalonic aciduria