Methylmalonyl-CoA mutase deficiency
From Wikipedia, the free encyclopedia
| OMIM | 251000 |
|---|---|
| DiseasesDB | 29509 |
|
methylmalonyl Coenzyme A mutase
|
|
| Identifiers | |
| Symbol(s) | MUT |
| Entrez | 4594 |
| OMIM | 609058 |
| RefSeq | NM_000255 |
| UniProt | P22033 |
| Other data | |
| EC number | 5.4.99.2 |
| Locus | Chr. 6 p21 |
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
 |
This disease article is a stub. You can help Wikipedia by expanding it. |
