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Maple syrup urine disease (MSUD) is an inherited condition caused by a faulty gene. It typically starts in early infancy.
In children with MSUD, the body can't break down certain amino acids. Amino acids are the pieces that build proteins.
The disease gets its name from the distinctive sweet smell of the urine of children who have it.
Worldwide, MSUD is rare. It affects about 1 in 185,000 infants.
But, it's more common in certain populations.
In the Old Order Mennonite community, it affects about 1 in 380 newborns. Among Ashkenazi Jewish populations, it affects about 1 in 26,000 infants.
Families pass down the genes that cause maple syrup urine disease.
Specifically, changes in any of these three genes causes MSUD:
These genes make proteins called enzymes that break down certain amino acids or other molecules in the blood.
If the body can't break these down, they build up in the blood and can become toxic. This makes children sick.
For a baby to be born with MSUD, each parent must carry a copy of the same mutated gene. Parents with only one broken gene often don't know because they don't have any symptoms.
Babies with MSUD can start to have problems a few days after delivery. It only takes a few days for amino acids and their toxic byproducts to build up in the blood and urine.
This causes symptoms such as:
There are different types of MSUD.
The intermediate form of MSUD is less severe. Symptoms may not start until a baby is a few months old.
A baby with the most severe form of MSUD may not survive more than a few weeks without treatment.
With intermittent MSUD, a child may only have symptoms some of the time. They may kick up when the child is sick or under stress.
All states in the U.S. screen newborns for MSUD at birth, using blood taken from a heel prick.
This helps doctors catch the most severe form of MSUD right away so a baby can start treatment before symptoms begin.
The milder or intermittent forms of MSUD may not appear in the newborn heel prick test.
In this case, if your child's doctor suspects MSUD, they'll run:
A newborn with MSUD will need a special formula. It has low levels of the three amino acids the body can't break down.
As children with MSUD grow, they must be on a special low-protein diet. Parents work directly with a nutritionist or specialist in child development.
Children with MSUD may also need:
UPMC also offers liver transplants for children with the most severe MSUD.
The liver makes enzymes that break down amino acids, so for many children, a new liver can cure MSUD. Post-transplant, they have normal liver function and can eat whatever they want.
Chief of Pediatric Transplant
Dr. Mazariegos and his team developed the liver transplant protocol for maple syrup urine disease.
Chief of Medical Genetics and Genomics
Dr. Vockley is a global leader in inherited metabolic conditions treatment and research. He's also a founder of the North American Metabolic Academy.
If your child has maple syrup urine disease, we want you to know that you're not alone. The Center for Rare Disease Therapy is here to help.
To make an appointment for your child or refer a patient for MSUD care:
In most cases, a genetic disease expert can see your child within one to two weeks.
Here's what you can expect when you come to us for a consult.
You can expect your first visit to take from four to six hours.
The doctor will give your child a complete assessment. They'll confirm your child's MSUD diagnosis and learn how much it affects your child.
Since we work as a team, your child may see many other rare disease center doctors and staff such as:
You'll have a care plan tailored to your child's needs by the end of your visit. You'll also have a follow-up visit in three months.
You'll meet our clinical nurse practitioner who can help you with any concerns you have between now and your next appointment.
It depends on the types of tests the doctor ordered. But, in most cases, you can expect a phone call within two weeks.
We'll explain the test results and discuss next steps for your child's MSUD care.
You can also find your child's test results if you signed up for the MyCHP patient portal.
MyCHP lets you manage your child's health online. It's free for patients, parents, and guardians of UPMC Children's Hospital of Pittsburgh.
A liver transplant cured Leah's maple syrup urine disease. Doctors at the Hillman Center for Pediatric Transplantation at Children's Hospital lead the world in performing this procedure.
At the Center for Rare Disease Therapy, every child diagnosed with a rare disease such as MSUD receives a tailored treatment plan.
For an appointment, consult, or referral, contact us:
Inborn Errors of Metabolism Information System (IBEM-IS)
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With MyCHP, you can request appointments, review test results, and more.
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