Illness Plan for Propionic Acidemia (PA)

Propionic acidemia (PA) is a genetic condition in which the body cannot process certain proteins and fats. It is caused by a mutation (change) in an enzyme called propionyl CoA carboxylase. Learn a care plan if your child with PA gets sick.

If you need to go to the emergency room, take this with you. Give it to the doctor so they can care for your child.

When Should I Call the Genetics and Metabolism Doctor?

When a child with PA gets sick, there are specific signs to look for that require further evaluation by a doctor, such as:

• Lethargy (extreme lack of energy), confusion or drowsiness
• Nausea or vomiting
• Abdominal pain
• Unwillingness or inability to eat, even when sick
• Rapid breathing
• Signs of low blood sugar (shaking, chills or sweats)
• Elevated (increased) urine ketones
• Seizures
• Fever

What Should I Do If I Am Concerned?

1. Call 911 in an emergency.
2. Bring your child to the emergency room. Have the doctors follow the steps below.
3. Call Mass General at 617-726-2000. Ask the operator to page the Genetics and Metabolism doctor on call.

What the ED Should Know

Below are steps to provide acute care to patients with PA.

1. Triage the patient IMMEDIATELY.
2. Page the Genetics and Metabolism MD on call at Massachusetts General Hospital.
3. Stop enteral intake. Start D10 (1/2NS or NS) at 1.5 times maintenance.
4. Halt all protein intake once you determine the patient is having metabolic decompensation severe enough to need treatment and acute metabolic management.
5. Obtain labs
• STAT blood glucose (finger stick, if needed)
• Comprehensive metabolic panel
• STAT Ammonia (free flowing, no tourniquet, on ice)
• CBC/diff
• Amylase
• Lipase
• Urinalysis
6. If neurologic signs of stroke are present, obtain a brain MRI. There is a high risk of stroke in this patient population.

There is a Genetics and Metabolism doctor available 24/7. You can reach them at 617-726-2000 (pager #26396).

Ask the operator to page the Genetics and Metabolism doctor on call. They can talk with you if you are concerned about whether to bring your child to the emergency room. They can also help you figure out what to tell the doctors once you arrive to the emergency room.

Rev. 9/2019. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.