Children’s Hospital Boston’s Metabolism Program evaluates and treats infants with a positive newborn screen result indicating a potentially complicated metabolic disorder.
Newborn screening is a critical, state-mandated testing procedure to identify potential metabolic disorders in newborns. Initial testing is done at the State Laboratory, while expanded screening is becoming more widely available with tandem mass spectrometry technology (MS/MS), which can screen for more than 20 metabolic disorders. Children’s on-site MS/MS ensures the timeliest testing and results.
Children’s Metabolism Program provides:
- Evaluation for genetic or metabolic diagnosis
- Biochemical testing, gene analysis, carrier testing
- Prenatal counseling and nutritional treatment
- Psychodevelopmental assessment
- Medical management and financial assistance
The Metabolism Program treats a wide range of conditions that are considered inborn errors of metabolism, including:
If a newborn test is positive, the child should immediately be seen by a specialist. Upon notification of a child with a positive newborn screen, follow the instructions sent by the State Lab, as well as:
The program has an on-call metabolism fellow and attending physician available 24 hours a day. Pediatricians and primary care physicians are encouraged to use this as a resource for questions of management and referral. Specialists are also available for consultation.
Diagnosis is based on a comprehensive history and physical assessment, as well as specific biochemical testing, which may include plasma and urine amino acids, urine organic acids and
acylglycines, total and free carnitine levels, lactic acid and ammonia. Lab work is tested on-site to avoid delays.
A psychologist, social worker, nutritionist, nurse practitioner and team of dedicated physicians follow each child and monitor his individual needs. Many (not all) of the devastating effects of metabolic disorders can be prevented with diet therapy.
New patients with a positive newborn screen result are being accepted. Urgent visits are scheduled as needed, while Metabolism clinics are held Tuesday and Thursday mornings
and Friday afternoons. Soon, the program will see also patients at satellite locations.
Gerard Berry, MD
Director, Metabolism Program
Harvey Levy, MD
Associate in medicine
Susan Waisbren, MD
Associate in medicine
Leah Hecht, MEd, RN, MSN