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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:
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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)
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children with a positive newborn screen
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children and adults with a positive family history of an IMD
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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
| Before your appointment |
| You will need to bring the following items to your appointment:
Please consider signing up for a MyChart account before your first visit. Our scheduling team will contact you by phone to schedule an appointment. If something changes and you need to reschedule your appointment, please let us know at least 24-48 hours in advance by calling 613-737-7600 x3912. No-shows or frequent cancellations may result in discharge from the service. |
| What to expect during your appointment |
| During your visit, you may be seen by the following health care providers:
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. |
| After your appointment |
| You will have follow-up with a member of our team to review the results of any requested tests. |
Frequently asked questions
| How can I make an appointment? |
| 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. |
| Who should I contact if I have questions? |
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| What tests might I need? |
| We may need to perform tests, either on the same day as your visit or at a later date. These tests may include:
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. |
| Why am I being referred to the Metabolics program? |
| 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.
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