Metabolic Disease Program
The Metabolic Disease Program at Children's Hospital of Philadelphia (CHOP) provides state-of-the-art diagnostic and treatment services for children with genetic metabolic disorders. We use advanced tools to help diagnose, treat and monitor children with these complex conditions. Our team works closely with CHOP’s Metabolic Diagnostic Laboratory, a full-service laboratory specializing in diagnosing and monitoring patients with inborn errors of metabolism, to provide consultations and discuss the results of metabolic tests.
As diagnostic tools and treatments have improved, children with these rare metabolic disorders are being identified earlier, beginning treatment sooner and living longer, healthier lives. Our program draws a collaborative group of specialists together to streamline care for these patients and provide support to families.
How we serve you
We offer a variety of specialized programs and clinical services for children with genetic metabolic disorders and their families.
Conditions we treat
We provide diagnostic services and long-term management for children with inborn errors of intermediary metabolism, peroxisomal disorders, lysosomal storage disorders and more.
- Inborn errors of intermediary metabolism
- Peroxisomal disorders
- Lysosomal storage disorders
- Williams syndrome
Meet your team
Your child's team includes board-certified physicians, pediatric nurse practitioners, social workers, genetic counselors and dietitians.
Our locations
You can visit staff from the Metabolic Disease Program at two locations on our Philadelphia campus.
Our research
Researchers at CHOP are actively studying metabolic diseases, collecting clinical and biological information from patients with specific disorders, and evaluating the safety and effectiveness of gene therapy for specific disorders.
Our resources
We have compiled resources – including websites, videos, support groups and more – to help you feel more confident in the care you are providing your child.
Patient stories
Your child’s appointment
Learn what to bring to your child’s appointment with the Metabolic Disease Program, where to check in and what you can expect at your child’s visit.
Your donation changes lives
Donations fuel breakthrough discoveries, innovative care and pioneering treatments for genetic metabolic diseases.
