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Metabolism Program

The Metabolism Program, part of the Division of Genetics at The Barbara Bush Children’s Hospital, is the only program of its kind in Maine. We provide specialty medical services, education and care coordination to individuals diagnosed with inborn errors of metabolism. Inborn errors of metabolism are inherited disorders in which the body cannot metabolize the components of food (carbohydrates, proteins and fats).

The clinic team members are health professionals with in-depth training and experience in these conditions, and include board-certified physicians with extensive expertise in metabolic disorders, a dietitian, genetic counselors, a licensed clinical social worker and a parent peer. Because early evaluation ensures the most effective treatment planning, we also provide consultative services to the Maine Newborn Metabolic Screening Program for the state of Maine.

The Metabolism Program provides care for patients and their families from infancy through adulthood. The comprehensive services we provide include:

  • Hospital and home visits for families
  • Nutritional assessment, diet prescription and management with a specialized Metabolic Dietitian
  • Information and education about metabolic conditions for families and other care givers (schools, daycares work etc.)
  • Referrals to other specialists
  • Parent-to-parent support
  • Twice monthly Metabolism Clinic (see below)

Conditions Treated

  • Biotinidase deficiency
  • Galactosemia
  • Glycogen storage disorders
  • Homocystinuria
  • Maple syrup urine disease (MSUD)
  • Phenylketonuria (PKU)
  • Fatty acid oxidation disorders (including MCAD, LCHAD, VLCAD)
  • Organic acid disorders (including propionic acidemia and isovaleric acidemia)
  • Amino acid disorders (such as tyrosinemia)
  • Urea cycle disorders

Metabolism Clinic

Proper nutrition and careful monitoring play a crucial role in managing inborn errors of metabolism, which are relatively rare. That’s why patients are best served by clinics that specialize in these disorders. Our twice monthly Metabolism Clinic provides thorough evaluation, treatment planning and ongoing management for exceptional continuity of care. Issues addressed during clinic include:

  • Medical and family history
  • Nutritional needs
  • Medical management
  • Educational needs
  • Genetic counseling
  • Laboratory follow-up