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Metadata
ID DOID:0050715
Name methylmalonic aciduria and homocystinuria type cblC
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.
http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22
Xrefs

MIM:277400

Synonyms

Cobalamin C deficiency [EXACT]

MAHCC [EXACT]

Parent Relationships

is_a methylmalonic acidemia

is_a digenic disease

Subclass Logical Relationships

has material basis in some digenic inheritance

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