Learn about maple syrup urine syndrome

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?

To meet some of the children on the liver transplant waiting list and to learn how you can help, visit UPMC.com/BeADonor.

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
  • Fatigue
  • Seizures
  • Vomiting

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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
  • Coma
  • Mental disability
  • Death

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.

How Can You Help?

You can give hope to children with MSUD and others who are waiting for a liver transplant by registering as an organ donor or becoming a living donor.

About Transplant Services

Established in 1981, UPMC Transplant Services is one of the foremost organ transplant centers in the world. Our clinicians have performed more than 20,000 organ transplant procedures, including liver, kidney, pancreas, single and double lung, heart, and more. We are home to some of the world’s foremost transplant experts and have a long history of developing new antirejection therapies—so organ recipients can enjoy better health with fewer restrictions.