Adult Metabolic Disease Clinic

We are committed to helping adults diagnosed with, or suspected of, having genetic disorders that affect their metabolism, including:

• Galactosemia
• Glycogen storage disorders
• Metabolic myopathies: e.g. McArdle's  disease, CPT 2 and others
• Homocystinuria
• Mitochondrial disease
• Phenylketonuria (PKU)
• Urea cycle defects: e.g. OTC deficiency, citrullinemia and others
• Fatty acid oxidation disorders: e,g, CPT 1 and 2, MCAD, LCHAD, VLCAD and others
• Lysosomal Disease: e.g.  Fabry and Gaucher disease, Niemann Pick B and C, Pompe disease and others
• Leukodystrophies: e.g. adrenoleukodystrophy, metachromatic leukodystrophy, and others
• Organic acidurias: e.g. propionic acidemia, methylmalonic acidemia, maple syrup urine disease, and others
• Metabolic bone diseases
• Neurotransmitter diseases
• Other inborn errors of metabolism

The multidisciplinary Adult Metabolic Disease Clinic(AMDC) team includes staff with a wide variety of expertise.

• The AMDC physicians are from diverse specialties, including internal medicine, neurology, medical biochemistry, medical genetics and biochemical genetics, and all of the physicians have particular interests and training in the field of inborn errors of metabolism.
• The AMDC nurses provide clinical support to metabolic patients through clinical assessment and monitoring, patient education, organization of available services close to home, liaising with health care providers in community and acute care settings, community referrals and advocacy.
• The AMDC dietitians provide clinical support to patients whose metabolic condition requires nutrition intervention, including diet education and metabolic and nutritional status assessment with individualized care planning. Patients who need counselling for more common disorders (such as diabetes, heart health or weight loss) will be referred by the metabolic team to community nutrition resources based on diagnosis and/or current health status and symptoms.
• The AMDC social worker provides patient advocacy and support services to individuals at the AMDC to identify and address financial, social and emotional concerns that are barriers to optimum metabolic control and quality of life.
• The AMDC genetic counsellor educates patients about the advantages and limitations of genetic testing, obtains their informed consent for testing, helps them understand the different types of results that can be found, and reviews implications for family members when a genetic disorder has been diagnosed.
• Our clerical team organizes appointments and coordinates with other services in the hospital that a patient might see all in the same visit.

The first clinic visit is two hours long. A friend or family member is also welcome to accompany you. Please bring a list of current medications, including dosage (or the medications themselves).

Follow-up visits can last anywhere from one to two hours. Follow-up visits are arranged as needed. You will be sent questionnaires before your appointment so that we can learn more about your medical history. We may also ask you to complete some lab tests. Please complete any forms or tests before your visit. There is no cost for the clinic appointment.