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PA is an inherited condition caused by a faulty gene.
Children with PA can't break down some types of fat and certain amino acids. Amino acids are the building blocks of protein, present in many foods.
As a result, substances called organic acids build up in the blood and urine.
This causes children to have lethargy, "floppy" muscles, poor appetite, and vomiting.
The Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh has experts in PA.
PA is a recessive genetic disorder that occurs when a child inherits the faulty gene from both parents.
It affects about:
PA is more common in places with a higher marriage rate between blood relatives.
It may affect as many as:
Changes in two genes — PCCA and PCCB — cause PA.
These genes tell your body how to make an enzyme that helps break down proteins. Without this enzyme, a toxic substance builds up in the body and causes health problems.
Parents can carry a gene for PA without having the disease.
If both parents carry the faulty gene, there's a:
The risk of PA between males and females is the same.
Children with PA usually form symptoms within a few days after birth.
These include:
Without treatment, symptoms can worsen and cause:
More rarely, infants with PA don't have symptoms early in life. This is late-onset propionic academia.
The symptoms come on later in childhood and often involve a child having a developmental delay.
Many states like Pennsylvania include PA in the standard newborn screening test.
Measuring levels of certain substances in the blood helps doctors diagnose PA at birth.
Doctors can diagnose it before birth with prenatal screening tests for those at high risk.
If either screening misses PA, doctors often diagnose it in the first weeks of life. They can diagnose it through use of a blood test and a family history.
They may also do genetic testing to confirm a broken gene.
There's no cure for PA, but we work closely with you and your loved ones to help manage it.
Babies and children with PA:
Some children need hemodialysis. This treatment involves an artificial kidney machine that removes waste products from the blood.
We also find these supportive techniques can help children with PA:
Liver transplants can help children with severe PA and other metabolic diseases.
Your doctor will talk to your family about whether this is an option.
Chief of Medical Genetics and Genomics
Dr. Vockley is a global leader in the field of inborn errors of metabolism and genetic and genomic medicine.
He's also a founder of the North American Metabolic Academy.
If a doctor diagnosed your child with propionic acidemia, we want you to know you're not alone. The Center for Rare Disease Therapy is here to help.
Here's what you can expect when you come to us for your child's PA consult and care.
Your child's first visit will take four to six hours.
Your child will have a complete assessment.
The doctor will make or confirm a PA diagnosis and determine how much the disease has progressed.
Because we work as a team here at the center, other experts might see your child during your visit.
These may include experts in:
Members of your child's PA care team will talk with you about the next steps, such as:
If surgery might be a treatment option for your child's PA, we'll discuss all the details. We'll let you know how you and your child can prepare.
By the end of your visit, you'll have a care plan tailored to your child's PA disease and health needs. We'll also schedule a follow-up visit in three months.
You'll meet our nurse practitioner. Before your next appointment, you can contact them by phone or video conference if you have any questions or concerns.
Before you leave, please ask us about your child's diagnosis, treatment, or anything else on your mind.
We will call within two weeks to discuss the test results and the next steps for your child's PA care.
You can also find your child's test results at MyCHP — Children's patient portal.
MyCHP is free to patients, parents, and guardians of UPMC Children's Hospital of Pittsburgh.
When a child has a rare disease like propionic acidemia, it affects the whole family.
At the Center for Rare Disease Therapy, every child we see receives a tailored treatment plan and family-centered care.
We also look at each family member as our partner. We know the best care happens when we merge our PA expertise with your knowledge of your child and their needs.
Learn how we give children with PA and their loved ones hope.
Read stories from our Center for Rare Disease Therapy patients. »
At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.
For an appointment, consultation, or patient referral with an expert at UPMC Children’s Hospital of Pittsburgh, please fill out our contact form and we will be in touch within two business days.
Phone: 412-692-7273 Email: RareCare@chp.edu
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.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.