Term Name: methylmalonic aciduria and homocystinuria type cblC
Synonyms: Cobalamin C deficiency, MAHCC
Definition: A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.
Ontology: Human Disease [DOID:0050715]   ( DOID:0050715 )

Relationships
is a type of: digenic disease methylmalonic acidemia