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The Metabolism Program at Children`s Hospital Boston evaluates children, adolescents, and adults with known or suspected metabolic disorders, acute or chronic in nature. Children`s team of pediatric metabolic specialists provides expert consultative, diagnostic and ongoing clinical management for patients with inherited metabolic disorders. Depending on the type of disorder, patients may meet with Children`s specialists in Gastroenterology/Nutrition, Psychology and Social Service. The most common metabolic conditions treated at Children`s are listed under Related Topics in the upper right corner of this page:
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Children's Metabolism Program provides state-of-the-art, comprehensive services for patients with inherited metabolic disorders. Services include:
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- Comprehensive Evaluation: evaluation for possible genetic or metabolic diagnosis
- Diagnostic Testing: Biochemical testing, Gene analysis, Carrier testing
- Nutritional Treatment
- Prenatal counseling: counseling for relatives of individuals with select disorders
- Psychodevelopmental Assessment
- Support Services: comprehensive, multidisciplinary support for a variety of patient and family programs, including medical management, developmental outcome, dietary adjustments, effect of the disorder on the family, and financial coverage.
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New drug on the horizon for PKU Results from a study led by Children's Hospital Boston suggest that some patients can lower their phe levels with a drug called BH4 (tetrahydrobiopterin)...
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