In methylmalonic aciduria, a specific metabolite accumulates in the body. This often leads to patients requiring intensive medical care (symbol image). (Photograph: University Children’s Hospital Zurich / Valérie Jaquet)
In methylmalonic aciduria, a specific metabolite accumulates in the body. This often leads to patients requiring intensive medical care (symbol image). (Photograph: University Children's Hospital Zurich / Valérie Jaquet) New research offers potential benefits for those affected by the hereditary metabolic disease methylmalonic aciduria. By combining the results of multiple molecular analyses, scientists can better diagnose this rare and severe disease. In the future, an improved understanding of the disease might also improve treatment options. Methylmalonic aciduria (MMA) is a metabolic disorder that affects approximately one in 90,000 newborns; both parents must carry a genetic predisposition to the disease. This means the disease is rare.
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