methylmalonic acidemia without homocystinuria (Q55787021)
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Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase
- Methylmalonic aciduria without homocystinuria
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | methylmalonic acidemia without homocystinuria |
Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase |
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1 reference