Methylmalonyl-CoA mutase deficiency

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Methylmalonyl-CoA mutase deficiency
Classification and external resources
OMIM 251000
DiseasesDB 29509

Methylmalonyl-CoA mutase deficiency ("MUT") is an inborn error of organic acid metabolism. It is one of the 29 conditions currently recommended for newborn screening by the American College of Medical Genetics.

It is a form of Methylmalonic acidemia.

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