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:

Inborn errors of intermediary metabolism
Mitochondrial disorders
Peroxisomal disorders
Lysosomal storage disorders
Connective tissue disorders
Williams syndrome

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.

Diagnostic services and long-term management for metabolic disorders
Multispecialty clinics for complex genetic disorders
Research and training

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

Organic acidopathies (propionic acidemia, methylmalonic acidemia, biotinidase deficiency, phenylketonuria (PKU) and other disorders)
Aminoacidopathies (maple syrup urine disease; homocystinuria; cobalamin deficiencies; tyrosinemia; urea cycle defects (ornithine transcarbamylase, carbamyl phosphate synthase, citrullinemia, argininosuccinic aciduria, arginase deficiencies) and non-ketotic hyperglycinemia)
Fatty acid oxidation defects (MCAD, VLCAD, LCHAD, SCAD deficiencies)

Mitochondrial disorders

Deficiencies of pyruvate dehydrogenase (PDH) and pyruvate carboxylase (PDH and PC); Leigh syndrome
Disorders of the electron transport chain (MELAS, MERRF, Cox (cystochrome C oxiase))
Disorders of mitochondrial DNA (Kearns Sayre syndrome, etc.)

Peroxisomal disorders

Zellweger syndrome and other peroxisomal biogenesis disorders
X-linked adrenoleukodystrophy and myeloneuropathy
Refsum disease

Lysosomal storage disorders

Gaucher disease; Niemann-Pick disease; Krabbe disease; metachromatic leukodystrophy; Tay Sachs; Sandhoff
Fabry
Mucopolysaccharidoses (Hurler, Hunter, Sanfilippo, Morquio, Maroteux-Lamy)
Mucolipidosis II (I cell)
Oligosaccharidoses (Mannosidosis, sialidosis, fucosidosis, galactosialidosis)
Congenital disorders of glycosylation

Connective tissue disorders

Marfan syndrome
Ehlers Danlos syndromes
Osteogenesis imperfecta
Cutis laxa
Williams Beuren

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.

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.

Lysosomal Center
Connective Tissue Disorders Multispecialty Clinic
Williams Syndrome Multispecialty Clinic

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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Main Number: 215-590-1000
Physician Referral Service: 1-800-879-2467
Coordinates: 39.9486937, -75.1929596
An Equal Opportunity Employer
The Children's Hospital of Philadelphia is an equal opportunity employer. We do not discriminate on the basis of race, color, gender, sexual orientation, age, religion, national or ethnic origin, disability or veteran status.