(Q6824028)
English
methylmalonyl-CoA mutase deficiency
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.
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
- methylmalonic aciduria mut type
- vitamin B12-unresponsive methylmalonic aciduria
- vitamin B12-unresponsive methylmalonic acidemia
Statements
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C148366
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Identifiers
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