Methylmalonyl-CoA mutase deficiency
From Wikipedia, the free encyclopedia
| 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.
[edit] External links
- Overview of condition, Genetics Home Reference at NLM
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