We all know how important protein is for our bodies. It provides energy and helps us grow, breaks down food, and repairs body tissue, among other critical functions.
- Amino acids are organic compounds that combine to create protein. So what happens when the body is unable to process some of these amino acids?
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The answer is maple syrup urine disease (MSUD), a genetic disorder in which the body cannot break down certain amino acids, leaving toxic chemicals in the blood. This condition is found most often in babies and children.
Signs and Symptoms of Maple Syrup Urine Disease
The symptoms and severity of MSUD vary from child to child. The most noticeable symptom is the strong and sweet odor similar to maple syrup that develops in the urine. Other common symptoms of MSUD include:
- Poor appetite
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Treatment for Maple Syrup Urine Disease
When MSUD is detected during a newborn’s screening, treatment must start right away. For some children, the disease can be controlled with a very strict diet. But a liver transplant is increasingly considered the best treatment option.
Diet for Children with MSUD
Since a child with MSUD is unable to process amino acids, a protein-restricted diet is very important. Even when the strictest diet is followed, complications can occur. Certain illnesses or situations can raise levels of amino acids, leading to:
- Brain damage
- Mental disability
Liver Transplant for Maple Syrup Urine Disease
In addition to a strict diet, a liver transplant can help manage and possibly cure MSUD.
The new liver helps supply the body with the enzymes needed to break down amino acids and process protein normally. Many children with MSUD who receive a liver transplant can live a normal, healthy life— and may even be able to eat protein-rich foods.
While a liver transplant can be life changing for a child with MSUD, it can be a very long and difficult process. Due to the shortage of organs, the wait for a liver to become available can take months to years.
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Editor's Note: This article was originally published on , and was last reviewed on .
About Transplant Services
For more than four decades, UPMC Transplant Services has been a leader in organ transplantation. Our clinicians have performed more than 20,000 organ transplant procedures, making UPMC one of the foremost organ transplant centers in the world. We are home to some of the world’s foremost transplant experts and take on some of the most challenging cases. Through research, we have developed new therapies that provide our patients better outcomes — so organ recipients can enjoy better health with fewer restrictions. Above all, we are committed to providing compassionate, complete care that can change – and save – our patients’ lives. Visit our website to find a provider near you.