Search Ontology:
Human Disease

methylmalonic aciduria and homocystinuria type cblC

Term ID
DOID:0050715
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. http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22
References
Ontology
Human Disease   ( DOID:0050715 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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