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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:0001263 | Global developmental delay |
| HP:0001987 | Hyperammonemia |
| HP:0001249 | Intellectual disability |
| HP:0002240 | Hepatomegaly |
| HP:0001733 | Pancreatitis |
| HP:0000124 | Renal tubular dysfunction |
| HP:0002072 | Chorea |
| HP:0001332 | Dystonia |
| HP:0100806 | Sepsis |
| HP:0001254 | Lethargy |
