What Is GM3 Synthase Deficiency?

Inborn Error of Energy Metabolism

GM3 synthase deficiency is an inherited condition caused by a faulty gene.

Children with GM3 synthase deficiency lack an enzyme the body needs to produce a type of fat called GM3 ganglioside. Without this fat the brain is unable to develop and function normally.

Affected children usually appear normal at birth but begin to develop symptoms between ages 2 weeks and 3 months.

Symptoms include:

• Irritability
• Muscle weakness
• Poor feeding
• Failure to grow normally
• Vomiting

Your Child's GM3 Synthase Deficiency Consult and Care: What to Expect

If your child has been diagnosed with GM3 synthase deficiency, we want you to know that you are not alone – the Center for Rare Disease Therapy is here to help.

Here’s what you can expect when you come to us for a consultation.

What should I expect at my child’s first visit for GM3 synthase deficiency 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 GM3 synthase deficiency 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:

• Genetic counselor.
• Neurologist.
• Hearing specialist.
• Physical therapist.
• Child development specialist.

What are the next steps after my child's GM3 synthase deficiency 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.
• GM3 synthase deficiency treatment options.
• Ways to help your child's quality of life at home.

By the end of your visit, you'll have a GM3 synthase deficiency 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 GM3 synthase deficiency, treatment, or anything else on your mind.

How long will I need to wait for my child's GM3 synthase deficiency test results?

We'll call within two weeks to review the test results and the next steps for your child's GM3 synthase deficiency 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 GM3 Synthase Deficiency Care

A child with a rare disease like GM3 synthase deficiency affects the whole family. We see each family member as our partner at the Center for Rare Disease Therapy.

The best care happens when we merge our GM3 synthase deficiency 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 GMS Synthase Deficiency

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.