| Metadata | |
|---|---|
| ID | DOID:0060743 |
| Name | methylmalonic acidemia cblB 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. https://www.ncbi.nlm.nih.gov/pubmed/12471062, https://www.ncbi.nlm.nih.gov/pubmed/7213387 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
methylmalonic aciduria cblB type [EXACT] methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type [EXACT] |
| Parent Relationships |