| Metadata | |
|---|---|
| ID | DOID:0050717 |
| Name | methylmalonic aciduria and homocystinuria type cblF |
| Definition | A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13. https://www.ncbi.nlm.nih.gov/pubmed/21910240 |
| Xrefs | |
| Synonyms |
Cobalamin F deficiency [EXACT] MAHCF [EXACT] |
| Parent Relationships |