[Skip to Content]

Metabolic Genetic Evaluation

The IMD center is a program for children and adults with inborn errors of metabolism. We are also a referral center for infants with an abnormal newborn screen for a biochemical disorder.

The IMD center is staffed by a medical geneticist, nurse practitioner, genetic counselor, registered dietician, social worker and registered nurse. Dr. Joan Pellegrino is the director of the center. Patients are seen by the entire team. Individualized management plans are made regarding medications, dietary recommendations, and follow-up plans.

Some indications may include:

  • Phenylketonuria
  • Other amino acid disorders
  • Galactosemia
  • Fatty Acid Oxidation disorders
  • Organic acidemias
  • Storage disorders
Top