methylmalonic aciduria and homocystinuria type cblF (DOID:0050717)
Alliance: disease page
Synonyms: Cobalamin F deficiency; MAHCF
Alt IDs: OMIM:277380
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.