Current Environment:

The Metabolism Program at Boston Children’s Hospital provides multidisciplinary support to individuals with metabolic disorders. A nutritionist, nurse practitioner, genetic counselor, psychologist, social worker, and team of dedicated physicians work together to develop care plans that meet the medical and emotional needs of each child, as well as the family’s need for support and information.

Diagnosis

Diagnosis for metabolic disorders is based on a comprehensive review of medical, developmental, and family history, physical evaluation, and specific biochemical testing. To avoid delays, most of the lab tests are done on-site in the Boston Children's Biochemical Diagnostic Laboratory.

Metabolic disorders can often be a challenge to diagnose since physical signs and symptoms of disease may not be present at birth. Newborn screening is a testing procedure that was developed to identify these “hard to detect” metabolic disorders in newborns.

Treatment

Our comprehensive treatment focuses on all aspects of metabolic diseases, including genetic testing, diagnostic and carrier testing, medical management, developmental outcome, dietary management, and supporting patient and family needs.

The key factors in our approach to treatment at Boston Children's include:

  • Expert advice and treatment is available from a group of physicians trained in metabolism and genetics, many of whom are well-recognized experts in the field.
  • Our team keeps close communication with families to schedule visits and blood tests. We also communicate closely with the primary care physicians to help establish a Patient-Centered Medical Home(PC-MH). Our social worker provides financial counseling and psychosocial support. We offer social support programs and collaborate with other metabolic centers throughout the region to ensure that all patients can meet others with their same disorder and learn to live as independently as possible with their medical condition. These include the summer camp and teen and young adult conference. We also offer the PKU School, teaching to allow individuals to take control of their own treatments, and other programs for self-management.
  • Boston Children's nutritionists work closely with the patient and family to develop a proper nutrition treatment plan based on their specific diagnosis. For many of the disorders, nutrition is the primary mode of therapy.
  • We provide ongoing developmental evaluation and neuropsychological testing for the patient with metabolic diagnosis. Psychotherapy and family counseling are also available to families who are interested.
  • We assist in Transition to Adult Health Care.
  • Women who have a metabolic disorder and who are pregnant or are planning a pregnancy are seen in our program, and consultation is offered to their obstetrician and medical home.
  • Through our program, patients have the opportunity to participate in cutting-edge research studies. For example, we are serving as the New England Center for a multicenter study in the U.S. whose aim is to determine whether a new medication CarbaGlu® will enhance the treatment of hyperammonemia in patients with urea cycle enzyme defects methylmalonic acidemia and propionic acidemia.

We believe that all children with metabolic disorders deserve to feel empowered and be able to reach goals. Our dedicated focus on a pediatric population, along with our access to resources throughout Boston Children's Hospital, allows us to provide the highest quality treatment to children.

About newborn screening

Newborn screening is a critical, state-mandated testing procedure used to identify potentially life-threatening metabolic disorders in newborns before signs and symptoms of disease begin. This screening test is important because the earlier these disorders are identified, the less likely a child will have long-term problems or irreversible complications.

The Metabolism Program at Boston Children’s Hospital has access to the New England Newborn Screening Program, one of the best Newborn Screening programs in the world. Under this program, every baby born in New England is tested for more than 30 genetic, endocrine, and metabolic disorders. PKU screenings of newborns, now conducted throughout the world, began in this program in 1962.

Although screening tests are mandatory in all states, not all states screen for the same disorders. To find a comprehensive list of what disorders your state screens for, visit the National Newborn and Genetics Resource Center.

The process

When the baby is about 2 days old, a small sample of blood is taken from the baby’s heel. This blood sample is put on a special piece of paper and sent to the New England Newborn Screening Program for analysis. If the test results are positive, the baby will be sent to the proper treatment center.

The majority of babies who test positive in New England are sent to the Metabolism Program at Boston Children’s Hospital. To confirm the diagnosis, we obtain a fresh sample of blood and a urine specimen and send them to the Boston Children's Metabolic Laboratory. When a positive diagnosis is confirmed, our entire medical team will immediately begin comprehensive treatment.