Metabolic Disorders (PKU-IEM) Clinic

The Metabolic Disorders (PKU-IEM) Clinic provides diagnostic and treatment service to children and adults with metabolic disease including: 

• Disorders of amino acid metabolism
• Urea cycle defects
• Organic acidemias
• Fatty acid oxidation defects
• Mitochondrial disease
• Lysosomal storage disease
• Disorders of carbohydrate metabolism (e.g. galactosemia)
• Peroxisomal disease

A Clinician's Guide to the Management of Mitochondrial Disease

We are a major referral center for patients identified through the New England Regional Newborn Screening Program. When necessary, patients can be admitted to the hospital for diagnostic testing. Genetic and prenatal counseling is provided to all patients and families regarding their diagnosis. Specialized metabolic-oriented nutritional and nursing expertise is available when necessary.

As an integral part of this service, the Metabolic Laboratory provides rapid diagnosis and verification of suspected diseases, as well as accurate and timely monitoring of patients receiving treatment.