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Metabolism Program Overview

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The Metabolism Program at Boston Children's Hospital provides comprehensive evaluation and treatment for infants, children and adolescents who have diseases that involve metabolism.  We also see adults who have been previously diagnosed with a metabolic disorder. 

Metabolism refers to the chemical reactions your body goes through twenty-four hours a day to turn food into energy for the body. . Inherited metabolic disorders (also known as “inborn errors of metabolism”) occur when these chemical reactions are disrupted by an enzyme deficiency.

Often, children will need a comprehensive evaluation to diagnose a disorder, which may or may not require a targeted treatment. No matter what your child's specific needs are, the Metabolism Program at Children’s can help.

Our staff

Our program is staffed by a team of experienced clinicians, all of whom have specialized training in the care of individuals with metabolic diseases. Members of our team include experts from neurology, gastroenterology, nutrition, cardiology, ophthalmology, genetics, psychology and social work.  We regularly collaborate with specialists throughout the hospital, as needed.   We ensure that the proper evaluations are performed, which can include neuroimaging, cardiac assessments, sleep studies, and other specialized evaluations.

We pride ourselves in how accessible we are to families. Our on-call metabolism fellow and attending physician are available 24 hours a day for urgent concerns from families and providers.  In addition, our laboratory staff is available for consultation whenever necessary.

Our multidisciplinary approach works to enhance a child’s health and development and helps them reach their maximum potential in all aspects of their normal activities.

Our expertise

We treat a wide range of conditions that are considered inborn errors of metabolism:

  • complicated biochemical abnormalities
  • conditions that may cause hypoglycemia
  • disorders of fatty acid oxidation
  • disorders of amino acid metabolism
  • organic acid disorders
  • lysosomal storage diseases
  • disorders of glycosylation
  • mitochondrial disorders
  • metabolic disorders detected in newborn screening

We have the expertise necessary to diagnose and treat problems ranging from relatively mild to potentially life-threatening disorders.

The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO