What Is Glutaric Acidemia Type 1?

Inborn Error of Energy Metabolism

Glutaric acidemia type 1 (GA-1) is an inherited condition caused by a faulty gene.

In children with GA-1, an enzyme that helps the body process amino acids is missing or defective. As a result, glutaric acid and other substances build up in the blood and urine.

Children with GA-1 may have larger than average heads at birth.

Other symptoms, such as drowsiness, muscle weakness, and poor appetite, often appear between ages 2 months and 4 years.

Jerry Vockley, MD, PhD

Chief of Genetic and Genomic Medicine

Dr. Vockley is a global leader in inborn errors of metabolism treatment and research. He’s also a founder of the North American Metabolic Academy.

Your Child's Glutaric Acidemia Type 1 Consult and Care: What to Expect

If your child has GA-1, 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.

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 GA-1 care?

You can expect your first visit to take from 4 to 6 hours. Your child will receive a complete assessment from one of the center's doctors.

The doctor will make or confirm a GA-1 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 expert.
• Heart doctor.
• Surgeon.
• Nutritionist.
• Genetic counselor.
• Psychologist.
• Child development specialist.

What are the next steps after my child's GA-1 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.
• GA-1 treatment options.
• Ways to help your child's quality of life at home.

By the end of your visit, you'll have a GA-1 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 GA-1, treatment, or anything else on your mind.

How long will I need to wait for my child's GA-1 test results?

We'll call within 2 weeks to review the test results and the next steps for your child's GA-1 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 GA-1 Care

A child with a rare disease like GA-1 affects the whole family. We see each family member as our partner at the CRDT.

The best care happens when we merge our GA-1 expertise with your knowledge of your child's needs.

Meet Our Rare Disease Center Patients

Learn how others are finding help and hope for their child’s rare disease through the expertise at UPMC Children’s.

View Center for Rare Disease Therapy patient stories »

Contact Us About Your Child’s GA-1

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:

• Phone at 412-692-7273.
• Email at rarecare@chp.edu.
• Fill out our rare disease contact form.

We’ll be in touch within 2 business days.