Maple syrup urine disease (MSUD)

Maple syrup urine disease (MSUD)

Maple syrup urine disease (also known as MSUD) is a hereditary metabolic disease, in which particular protein components (amino acids leucine, isoleucine and valine) cannot be properly processed in the body. As a consequence, toxic substances accumulate,which can lead a rapid decline in newborns. Particularly serious is the occurrence of brain swelling, which can cause a coma. If left untreated, this disease can lead to death. There are also milder forms, which can affect sufferers less significantly.

With a strict diet MSUD can be well-managed. Patients who are diagnosed as part of newborn screening have a good prognosis.

 

 
Therapy: 
  • With a strict diet MSUD can be well-managed.

 

 
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