methylmalonic aciduria and homocystinuria type cblC

created [InstanceEdit:3318614] Jassal, B, 2013-04-29
databaseName DOID
dbId 3318630
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.
displayName methylmalonic aciduria and homocystinuria type cblC
identifier 0050715
modified [InstanceEdit:3318649] Jassal, B, 2013-04-29
name
  • methylmalonic aciduria and homocystinuria type cblC
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • Cobalamin C deficiency
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:0050715
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