Metabolic Disease

Metabolic Disease

The Metabolic Disease Section at The Children's Hospital of Philadelphia provides state-of-the-art diagnostic and treatment services for inborn errors of metabolism:

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.

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Diagnostic services and long-term management for metabolic disorders

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

Inborn errors of intermediary metabolism

Mitochondrial disorders

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Peroxisomal disorders

Lysosomal storage disorders

Connective tissue disorders

Williams syndrome

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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.

We have 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.

Research and training

In addition to our diagnostic and treatment services, we provide training in metabolic diseases and support active research programs that have made important contributions to the field.

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