Maple syrup urine disease (MSUD) is genetic condition in which the body cannot break down certain amino acids in protein. It causes distinctive sweet-smelling urine. Learn a care plan if your child with MSUD gets sick.

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

When to Call Your Metabolism Doctor

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

  • Lethargy (extreme lack of energy)
  • Vomiting or nausea
  • Unwillingness or inability to eat, even when sick
  • Urine that smells sweet or like maple syrup
  • Lack of coordination or weakness
  • Seizures

What Should I Do If I Am Concerned?

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

What the ED Should Know

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

  1. Page the Genetics and Metabolism MD on call at Massachusetts General Hospital.
  2. Make sure the patient is hydrated. Evaluate for fever or infection. Check neurological status for increased intracranial pressure or leucine encephalopathy. Signs include lethargy, confusion, ataxia, nausea, headaches and abdominal pain.
  3. Obtain labs.
    • CMP
    • Plasma amino acids
    • CBC differential and WEBC count (if indicated)
    • Serum amylase
    • Lipase
    • Blood culture, if indicated
  4. Obtain urine studies.
    • Urinalysis, for specific gravity and ketones
    • Urine culture, if indicated

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

Ask the operator to page the Genetics and Metabolism doctor on call. The doctor 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.