Inborn Error of Energy Metabolism
Fatty acid oxidation disorders (FAODs) are a group of inherited conditions, each caused by a faulty gene.
Fatty acids are the building blocks of fat. Enzymes help the body convert fat into fatty acids and then into energy.
In children with FAODs, an enzyme that helps the body use stored fat for energy is missing or defective.
When the body can’t convert fat into energy, fatty acids build up in the heart, liver, and other organs.
Children with FAODs may have symptoms such as:
- Drowsiness.
- Vomiting.
- Poor feeding.
- Trouble breathing.
They can also develop muscle, heart, or liver disease.
Jerry Vockley, MD, PhD
Chief of Genetic and Genomic Medicine
Dr. Vockley is a world-renowned leader in inborn errors of metabolism treatment and research.
He’s a founder of the North American Metabolic Academy and co-chair of INFORM — an international FAOD research and management network..
Your Child's Fatty Acid Oxidation Disorder Consult and Care: What to Expect
If a doctor diagnosed your child with a FAOD, we want you to know you're not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children's Hospital of Pittsburgh is here to help.
To make an appointment for your child or refer a patient for FAOD care, contact us by:
Here’s what you can expect when you come to us for a consult.
What should I expect at my child’s first visit for FAOD care?
You can expect your first visit to take from four to six hours. Your child will receive a complete assessment from one of the center's doctors.
The doctor will make or confirm a FAOD diagnosis and find out how much the disease has progressed.
Because we work as a team at the center, other doctors and staff might see your child during your visit.
These may include a:
- Brain, spine, and nervous system doctor.
- Heart doctor.
- Surgeon.
- Nutritionist.
- Genetic counselor.
- Psychologist.
- Child development specialist.
What are the next steps after my child's FAOD visit to the Center for Rare Disease Therapy?
Members of your child's care team will talk with you about:
- Likely next steps for your child.
- FAOD treatment options.
- Ways to help your child's quality of life at home.
By the end of your visit, you'll have a FAOD care plan tailored to your child's needs. We'll also schedule a follow-up visit.
You'll meet our nurse practitioner. You can contact them by phone or video conference with any concerns before your next visit.
Before you leave, please ask us about your child's FAOD, treatment, or anything else on your mind.
How long will I need to wait for my child's FAOD test results?
We'll call within two weeks to review the test results and the next steps for your child's FAOD care.
You can also find your child's test results if you have a MyCHP account — Children's patient portal.
MyCHP lets you manage your child's health online. It's free for kids getting treatment at UPMC Children's Hospital of Pittsburgh and their loved ones.
Partners in Your Child's Fatty Acid Oxidation Disorder Care
A child with a rare disease like a FAOD affects the whole family. We see each family member as our partner at the CRDT.
The best care happens when we merge our FAOD expertise with your knowledge of your child's needs.
At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.
For an appointment, consult, or referral, contact us:
We’ll be in touch within 2 business days.
Meet Our Rare Disease Center Patients