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methylmalonic acidemia cblB type
Summary
- Synonym
-
- methylmalonic aciduria cblB type
- methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
- Definition
- A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24.
- Super Class
- methylmalonic acidemia
External Links
- Disease Ontology
- DOID:0060743
- Mondo Disease Ontology
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22033 | Methylmalonyl-CoA mutase, mitochondrial |
