Term Name:	methylmalonic aciduria and homocystinuria type cblF
Synonyms:	Cobalamin F deficiency, MAHCF
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.
Ontology:	Human Disease [DOID:0050717]   ( DOID:0050717 )