Metabolic Disease Program

The Metabolic Disease Program at Children's Hospital of Philadelphia provides state-of-the-art diagnostic and treatment services for genetic metabolic disorders. By using advanced tools for the diagnosis and treatment of these conditions, we're able to help manage your child's disorder so she can live a longer, healthier life. The program is part of the Division of Human Genetics.

Our staff includes board-certified physicians, pediatric nurse practitioners, social workers, genetic counselors and dietitians. We work closely with our Metabolic Diagnostic Laboratory, a full-service laboratory specializing in diagnosing and monitoring inborn errors of metabolism, and are available to provide consultations and discuss the results of metabolic tests.

Conditions we treat

We provide diagnostic services and long-term management for the following disorders:

  • Inborn errors of intermediary metabolism
  • Peroxisomal disorders
  • Lysosomal storage disorders
  • Williams syndrome

Multispecialty clinics for complex genetic disorders

Improved tools for the diagnosis and treatment of inborn errors of metabolism have resulted in longer life-spans for affected newborns, children and adults. Many of these metabolic disorders give rise to multisystem diseases that require the expertise of a diverse array of specialists.

Our multispecialty clinics for complex genetic disorders to streamline the clinical care of these complex patients, to improve multispecialty care and reduce the heavy emotional and financial burden on the family and on practitioners. These clinics include:

  • Lysosomal Center
  • Newborn Screening Clinic