Metabolic Genetics

You may be referred to a metabolic genetics clinic if you or a family member has:

A recurrent unexplained illnesses leading to progressive deterioration in physical or mental status

Unexplained developmental delay, mental retardation, seizures or autistic-like features

A suspected metabolic diseases such as amino acid, fatty acid oxidation disorders organic acid acidemias, carbohydrate disorders, lysosomal storage disorders , peroxisomal or mitochondrial disorders

Any abnormality detected on newborn screening for metabolic disorders

Unexplainned liver, spleen enlargement, cardiomyopathy and other systemic involvements

Centres Offering Metabolic Genetics Services:


Program in Human Genetics
Hamilton Health Sciences
1200 Main Street West
Hamilton, ON L8S 4J9
Tel: 905.521.5085
Fax: 905.521.2651


Kingston General Hospital
76 Stuart Street, Connell 4
Kingston ON K7L 2V7
Tel: 613.548.2467
Fax: 613.548.1348

London: Medical Genetics Program of Southwestern Ontario
Children's Hospital of Western Ontario
800 Commissioners Road East
London, ON N6C 2V5
Tel: 519.685.8140
Fax: 519.685.8214

Ottawa: Department of Genetics
Children's Hospital of Eastern Ontario
401 Smyth Road,
Ottawa,ON K1H 8L1
Tel: 613.737.2275
Fax: 613.738.4822

Toronto: Clinical and Metabolic Genetics Clinic
Hospital for Sick Children
555 University Avenue
Toronto, ON M5G 1X8
Tel: 416.813.6390
Fax: 416.813.5345

Adult Genetics Program
University Health Network - Toronto General Hospital
Fred A. Litwin and Family Centre for Clinical Genetics & Genomic Medicine
60 Murray Street Room 400
Toronto, ON M5T 3L9
Tel: 416.586.4800 Ext 4220
Fax: 416.5619.5523

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May 1, 2014