OBO ID: DOID:0050715
Term Name: methylmalonic aciduria and homocystinuria type cblC Search Ontology:
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 methylmalonic aciduria and homocystinuria type cblC PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MMACHC Methylmalonic aciduria and homocystinuria, cblC type 277400
PRDX1 Methylmalonic aciduria and homocystinuria, cblC type, digenic 277400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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