Methylmalonic acidemia without homocystinuria
ORPHA:293355
Definition
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.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Age of onset
- All ages