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methylmalonic acidemia due to transcobalamin receptor defect
Summary
- Synonym
-
- methylmalonic acidemia, TCblR type
- methylmalonic aciduria due to transcobalamin receptor defect
- Definition
- A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.
- Super Class
- methylmalonic acidemia
External Links
- Disease Ontology
- DOID:0060741
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22033 | Methylmalonyl-CoA mutase, mitochondrial |
