| 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.
Symptoms include: failure to thrive, vomiting, dehydration, developmental delay, and seizures.
An accumulation of propionyl CoA, a substrate for a TCA cycle enzyme, and of citrate synthase, leading to an accumulation of methyl citrate (a TCA toxin) accompanies the lack of methylmalonyl CoA mutase.
It is a form of Methylmalonic acidemia.
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