Metabolic Genetics Clinic

Children and adults with metabolic disorders, such as Phenylketonuria (PKU), are seen in this clinic for treatment and management. In addition, newborns with abnormal newborn screening for metabolic disorders are seen in this clinic for diagnostic testing and treatment if a diagnosis is confirmed.

Children and adults with known genetic syndromes are seen in this clinic for management and follow-up. Common syndromes seen include Down syndrome, Neurofibromatosis 1 and Marfan syndrome.

In addition, children and adults are referred to this clinic for diagnostic testing when a genetic syndrome is suspected. Common reasons for referral include birth defects, developmental delays and autism.