The Genetic Inborn Errors of Metabolism Service provides diagnostic evaluation and management of metabolic disorders that are detected by the Connecticut State Newborn Screening Program, or by other evaluations.

The Division of Human Genetics is a designated treatment and management center in Connecticut. Referrals are made by the primary care physician following notification by the State Newborn Screening Program. Our program provides diagnostic confirmation and treatment, management, genetic counseling and family support. In addition, individuals who relocate to Connecticut are referred to our service.

The service offers confirmatory diagnosis, treatment, management, counseling and family support for inherited inborn errors of metabolism, including, but not limited to

• Amino Acid Disorders such as phenylketonuria (PKU), homocystinuria, and maple syrup urine disease (MSUD)
• Disorders of Fatty Acid Oxidation such as MCADD;
• Disorders of Organic Acid Metabolism such as isovaleric acidemia; and galactosemia

We provide in-depth evaluations, patient literature, group parent meetings and family events (including a semi-annual Connecticut Family PKU Weekend). We assist in obtaining insurance coverage for treatment.

Comprehensive consultation reports are provided to the referring health care provider and the family. Management is provided for infants, children and adults, including pregnant women with PKU and other metabolic conditions.