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bn:03112979n
Noun Concept
Categories: Genes on human chromosome 6, Amino acid metabolism disorders
EN
methylmalonyl-CoA mutase deficiency  methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency  methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency  methylmalonic aciduria mut type  Methylmalonyl-Coenzyme A mutase deficiency
EN
Methylmalonyl-CoA mutase is a mitochondrial homodimer apoenzyme that focuses on the catalysis of methylmalonyl CoA to succinyl CoA. Wikipedia
Definitions
Relations
Sources
EN
Methylmalonyl-CoA mutase is a mitochondrial homodimer apoenzyme that focuses on the catalysis of methylmalonyl CoA to succinyl CoA. Wikipedia
A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has material basis in mutation in the MUT gene on chromosome 6p12.3. Wikidata
IS A
rare disease
genetic disease
methylmalonic acidemia
GENETIC ASSOCIATION
methylmalonyl-CoA mutase
Wikipedia
EN
methylmalonyl-CoA mutase deficiency
Wikidata
EN
methylmalonyl-CoA mutase deficiency
Wikipedia Redirections
EN
Methylmalonyl-Coenzyme A mutase deficiency
Wikidata Alias
EN
methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria mut type, vitamin B12-unresponsive methylmalonic acidemia, vitamin B12-unresponsive methylmalonic aciduria

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