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methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Summary
- Synonym
-
- methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
- methylmalonic aciduria mut type
- vitamin B12-unresponsive methylmalonic aciduria
- 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.
- Super Class
- methylmalonic acidemia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00754 | Lysosomal alpha-mannosidase | |
| P22033 | Methylmalonyl-CoA mutase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001875 | Neutropenia |
| HP:0000083 | Renal insufficiency |
| HP:0001903 | Anemia |
| HP:0001259 | Coma |
| HP:0002098 | Respiratory distress |
| HP:0000648 | Optic atrophy |
| HP:0001510 | Growth delay |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0001266 | Choreoathetosis |
| HP:0002017 | Nausea and vomiting |
