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 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.