Metabolics Clinic

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Children, youth and families Healthcare providers

About the Metabolics program

Our metabolism is how our body uses dietary proteins, fats, and carbohydrates to make energy. Inherited metabolic diseases (IMDs) are genetic conditions that result in a problem with the body’s metabolism and biochemistry. There are hundreds of different IMDs, and their symptoms, treatments, and prognoses vary widely.

Our clinic provides diagnosis, treatment and ongoing care for the following types of patients:

  • children and adults with known or suspected IMDs (including disorders of amino acid, fatty acid, organic acid, or carbohydrate metabolism, and lysosomal storage, peroxisomal, and mitochondrial disorders)

  • children with a positive newborn screen

  • children and adults with a positive family history of an IMD

  • children and adults with unexplained seizures and/or neurological dysfunction

Treatments provided to IMD patients may include specialized diets and medical foods, medications, enzyme replacement therapies, transplants, and more novel treatments (e.g. gene therapy). We work closely with other medical teams and allied health professionals to provide care to IMD patients. Our team is actively involved in research, including clinical trials.

Please note, children and adults with unexplained neurodevelopmental disorders (global developmental delay, intellectual disability, autism spectrum disorder, or other complex developmental-behavioural disorder) can be referred to the Neurodevelopmental Disorders Diagnostic Clinic (NDDC). If they are diagnosed with an IMD, they will be transferred to the Metabolics Clinic for ongoing care.

About our team

Our team includes three physicians, one nurse case manager, one newborn screening nurse, and two specialized metabolic dietitians. We also have a part time social worker and a part time clinical psychologist.

Information for children, youth, and families

You will need to bring the following items to your appointment:

  • health card
  • relevant medical records and medication list
  • developmental assessments
  • relevant dietary records

Please consider signing up for a MyChart account before your first visit.

Our scheduling team will contact you by phone to schedule an appointment.

Missed Appointments & Late Cancellations
CHEO is committed to providing timely care for children, youth, and families. If this is your first appointment in a clinic or department and you miss two appointments without giving at least 48 hours’ notice, your referral will be returned to the care provider who submitted it. They can then follow up with you to confirm whether you still need or wish to proceed with the referral.

We understand life happens and unforeseen events come up. Please notify us as early as possible by calling 613-737-7600 x2222 — ideally at least 48 hours in advance — if you need to cancel or reschedule. This helps us offer the appointment to another family and keep wait times as short as possible. A cancellation 48 hours or more in advance will not count as a missed appointment.

During your visit, you may be seen by the following health care providers:

  • a nurse who will review medications and collect measurements
  • doctors with special expertise in genetic metabolic disorders
  • dietitians who specialize in the nutrition issues of IMDs,
  • psychologists and social workers

CHEO is a teaching hospital, you/your child may be seen by a medical student, resident, fellow, or other learners.

You will be asked questions about your/your child’s pregnancy and birth, your/your child’s medical history, and your family history (on both parents’ sides). The doctor will also do a physical examination.

Depending on the information you provide and the results of the physical examination, the doctor may offer additional testing for you/your child. This could include blood or urine tests or imaging (e.g. x-rays or MRI).

Parents may also need to give a blood sample, so be sure to bring a valid health card.

You will have follow-up with a member of our team to review the results of any requested tests.

Frequently asked questions

All patients must be referred by a Physician or Nurse Practitioner.

After a referral is received, we will notify the referring Physician or Nurse Practitioner whether the referral has been accepted or denied, and if accepted we will provide an estimated wait time. This wait time can vary based on demand and urgency. Once we have an appointment spot to offer, our Scheduling Team will reach you by phone to schedule an appointment.

  • For any emergency, call 911. This includes emergencies involving your child’s IMD
  • For patients who are being followed by the Metabolics Clinic: For patients who have seen a CHEO Metabolics Provider, call your Nurse Case Manager or send a direct message to them through MyChart. This is not for urgent calls. Our nurses are here to give support, education, and will work to coordinate your child’s care. It may take 3-5 days for us to get back to you (and sometimes longer during holidays). We will return the most urgent calls first. Please avoid leaving multiple messages for the same issue.
  • For patients who are waiting for their first visit with the Metabolics Clinic: Please do not call the nurses line if you have not yet been seen by a CHEO Metabolics Provider. Please call your family doctor, pediatrician, or visit your nearest walk-in clinic.

We may need to perform tests, either on the same day as your visit or at a later date. These tests may include:

  • blood tests
  • urine tests
  • x-rays or other medical imaging
  • skin biopsies

If needed at later visits, more specialized testing could be requested. These tests and the results will be discussed with you at your clinic visits.

You, or your child, have been referred for assessment because your doctor feels there is a chance you may have an Inherited metabolic diseases (IMD). A Metabolics physician may recommend specific testing to help make the diagnosis. If you, or your child, are found to have an IMD, the Metabolics physician will make sure you receive the correct treatment.

Sign up for MyChart to access your CHEO health record anywhere, any time.
MyChart is a secure, online patient portal that connects you to parts of your CHEO electronic health record and allows you to send two-way secure communication to your care team, complete any questionnaires your care team sends and much more.
To learn more about MyChart and sign up, visit our MyChart page and fill out the MyChart Access Request Form.

Information for healthcare providers

Make a referral

Our clinic is now accepting e-referrals with Ocean!

If you’re already on Ocean, look us up via your account by searching "CHEO".
If you don’t yet have an Ocean account, no problem - signing up is free.

Make a referral in Ocean

A physician referral is required. You can make an e-referral using Ocean, or send a referral by mail or fax to our address below.

Please include the following with your referral:

  • Reason for referral
  • All supporting medical information including previous biochemical and genetic testing results
  • Any diagnostic imaging results
  • Relevant growth charts
  • Developmental, educational, or psychological reports, if available
  • Family history information, if available

Other helpful information for providers

If you are unsure if you should refer your patient to our service, have questions about ordering testing, or interpreting laboratory results, please submit an eConsult through OTN or the Champlain eConsult BASE Service.

Contact us

Metabolics Clinic

The Metabolics clinic is located at the main CHEO campus (401 Smyth Road) in Clinic C-5. We are on the main level of the hospital. Please follow the maps and signs to find us. Our clinic is open Monday to Friday, 8a.m. to 4p.m.

Mailing address:

Clinic C-5
CHEO
401 Smyth Road
Ottawa, ON K1H 8L6
Tel: 613-737-7600 Ext 3912
Fax: 613-738-4258

Metabolics Office

The Metabolics office is located on the 3rd floor of the Max Keeping Wing, attached to the main CHEO building. The Metabolics office is open Monday to Friday, 8a.m. to 4p.m.

You can reach the Metabolics administrative assistant at 613-737-7600 extension 2821 or by fax at 613-738-4216.

Mailing address:

Division of Metabolics and Newborn Screening
Department of Pediatrics, Room W3116
CHEO
401 Smyth Road
Ottawa, ON K1H 8L6
Tel: 613-737-7600 Ext 2821
Fax: 613-738-4216

Contact Us

City Hall
123 Conestoga Drive
Glasgow G1 5QH

111-222-3333
mail@example.com

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