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Home » Genetics and Metabolism » Metabolic Service

Metabolic Service

Metabolism is the process by which our bodies make energy from the foods we eat (proteins, carbohydrates and fats). Differences in the body’s metabolism result in a metabolic condition. Appointments in the metabolic clinic include reviewing the patient’s medical and family history, a physical examination and blood and urine tests.

The multidisciplinary metabolic clinic provides service in the assessment, diagnosis, and ongoing management and counselling of children, adults and their families with suspected or confirmed metabolic diseases. The team consists of genetic counsellors, dieticians, metabolic geneticists and administrative support staff. Each patient may meet with some or all of the members of this team based on his/her needs.

The metabolic service works closely with the Metabolic Diseases Laboratory at the Health Sciences Centre and the Newborn Screening Program at the Cadham Provincial Laboratory. The pediatric metabolic team is responsible for the follow up assessment of newborns from Manitoba and northwestern Ontario identified with a positive newborn screen for a possible metabolic disorder. This service also provides consultation support to other multidisciplinary teams.

Common indications for a referral to the Metabolic Service:

  • Possibly affected with a metabolic condition
  • Positive newborn screen
  • Positive family history of a known metabolic condition
  • Abnormal metabolic screen
  • Developmental delay
  • Intractable seizures
  • Leukodystrophies
  • Congenital cataracts
  • Possible metabolic myopathy/neuromuscular disorder
  • Rhabdomyolysis
  • Possible mitochondrial and energy metabolism disorders


Referrals are accepted from primary healthcare physicians, specialists, nurse practitioners

Download the Referral Form for Pediatric and Adult Metabolic Services (PDF, 54 KB)

Please include up to date patient demographics as well as supporting medical documentation

  • Imaging reports (U/S, MRI, CT, X rays)
  • Blood and urine tests results
  • Specialist’s clinic letters
  • Developmental assessment reports

If your patient has a family history of a known metabolic condition

  • Name, demographics (if known) and location of affected individual
  • Indicate if your patient or partner is pregnant.

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