Children's Hospital Boston 300 Longwood Avenue
Boston, MA 02115
(617) 355-6000
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Clinical Services (Metabolism Program):
Newborn Screening
Children's Hospital Boston's Metabolism Program evaluates and treats infants with a positive newborn screen result indicating a potentially complicated metabolic disorder.
About newborn screening
Newborn screening is a critical, state-mandated testing procedure to identify potential metabolic disorders in newborns. The earlier these disorders are identified, the less likely a child will have long-term problems. 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.
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Program basics
Children's Metabolism Program provides services for patients with inherited metabolic disorders, including:
? evaluation for genetic or metabolic diagnosis
? biochemical testing, gene analysis, carrier testing
? prenatal counseling and nutritional treatment
? psychodevelopmental assessment
? medical management and financial assistance

Conditions treated
A wide range of conditions that are considered inborn errors of metabolism are treated, including:
? complicated biochemical abnormalities
? disorders of fatty acid oxidation
? disorders of amino acid metabolism
? galactosemia
? organic acid disorders
? phenylketonuria (PKU)

Multidisciplinary team
Children?s Metabolism Program has an on-call metabolism fellow and attending physician available 24 hours a day. Specialists in Neurology, Gastroenterology and Nutrition, Cardiology, Ophthalmology, Genetics, Psychology, Social Work and laboratory staff are also available for consultation.

Diagnosis
Diagnosis is based on a comprehensive history and physical assessment, as well as specific biochemical testing. Lab work is tested on-site in our Biochemical Diagnostic Laboratory to avoid delays.

Long-term care and management
A psychologist, social worker, nutritionist, nurse practitioner and team of dedicated physicians follow each child and monitor his or her individual needs. Many (not all) of the devastating effects of metabolic disorders can be prevented with diet therapy.

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