CHOC’s Metabolic team is committed to diagnosing and caring for children with inborn metabolic diseases. Our treatment protocols and research are built upon the latest findings in our field, through a collaborative approach combining our expertise with other leading experts throughout the nation.

Genetic diseases are becoming increasingly recognized, and early testing, diagnosis and appropriate treatment interventions are critical to prevent complications, permanent disability, mental retardation and even death in children with inborn metabolic disorders. We are hopeful that many more metabolic conditions will be diagnosed by the use of new technologies currently available in newborn screening.

Testing and treatment for metabolic disorders is non-invasive and largely provided in an outpatient setting by our experienced treatment team. Most treatment involves specific diets and formulas that are devoid of the metabolites that cannot be broken down in patients with metabolic disorders. Through treatment, we are able to prevent the natural course of the disease.

To schedule an appointment with a CHOC Metabolic specialist, please call (714) 532-7983.