Term Name: methylmalonic acidemia
Synonyms: methylmalonic aciduria, methylmalonic aciduria cblB type, methylmalonic aciduria mut type
Definition: An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
Ontology: Human Disease [DOID:14749]   ( DOID:14749 )

Relationships
is a type of: organic acidemia
has subtype: methylmalonic acidemia and homocysteinemia cblX type methylmalonic acidemia cblA type methylmalonic acidemia cblB type methylmalonic acidemia due to transcobalamin receptor defect methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and homocystinuria type cblE methylmalonic aciduria and homocystinuria type cblF methylmalonic aciduria and homocystinuria type cblG methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency