Metabolic Genetics Clinic

The Genetic Metabolic Diseases Program at SickKids diagnoses and treats children with inborn errors of metabolism. We manage metabolic diseases, such as amino acid, fatty acid, organic acid, sugar disorders, lysosomal storage, peroxisomal or mitochondria disorders. We also see children with recurrent unexplained illness or progressive deterioration in physical or mental status; children with unexplained developmental delay, cognitive impairment, seizures, autism or autistic-like features; infants with a positive newborn screen; and children with a positive family history of a metabolic disease. Due to the nature of the conditions, many patients will be followed from diagnosis until adulthood. 

What to bring: 

• If your child is on a specialty diet, please bring your food records as instructed by your dietitian or nurse. 
• If you do glucometer testing for your child’s condition, please bring your glucometer to clinic as well as your blood glucose logs.

Important pre-appointments instructions:

Unless your child has been instructed to fast, your child is permitted to eat and drink as normal. 

Directions:

Monday to Wednesday Clinics 

555 University Avenue Clinic 9, Burton Wing, Main Floor 

The first thing to do is to go to Clinic 9, Main Floor, Burton Wing. From the University Avenue entrance, walk down the hall to your right (in the opposite direction of Shoppers Drug Mart) and turn down the first hallway on your left. Metabolic Genetics is the first clinic on the right side of this hall. 

From the Elizabeth Street entrance and parking garage elevators, walk all the way down Main Street towards Shoppers Drug Mart. At the Family Centre turn left. At the end of this hallway you will find the Metabolic Genetics registration and waiting area. 

Monday morning registration and waiting area is Room M120 (door marked “Allergy Clinic”). Monday afternoon, Tuesday morning and Wednesday morning registration and waiting area is Room M100. 

Thursday Clinics 

Thursday: 525 University Avenue, Suite 940, 9th Floor 

The Thursday clinic is located at 525 University Ave, Suite 940. Take the elevator to the 9th floor. 

If parking at SickKids, exit the hospital at the University Avenue entrance (located beside Shoppers Drug Mart). Follow the driveway to the left and cross Elm Street southbound to 525 University Avenue (blue office building). 

We have a team approach to providing care. The metabolic team includes doctors with special expertise in genetic metabolic disorders, nurses, a nurse practitioner, dietitians, a genetic counsellor and a social worker. First, your child’s growth will be measured by one of our metabolic nurses, who will also obtain a brief health history about your child. Following this your child will be seen by the metabolic doctors or nurse practitioner, as well as the genetic counsellor, dietitian and/or social worker as required. 

Because SickKids is a teaching hospital you may meet doctors in training (metabolic fellows, paediatric residents and medical students). We will make every effort to see your child in a timely manner but appointments may last up to two hours. 

If blood/urine testing is required you will be given requisitions to do this after your appointment, unless you are called in advance and asked to go prior to seeing the team.

The Metabolic Genetics Clinic is part of the Division of Clinical and Metabolic Genetics.