Neurometabolic Program Your Visit

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Contact the Neurometabolic Program

  • 1-617-355-6388
  • International: +1-617-355-5209

Through a collaborative approach, the Neurometabolic team strives to provide a comprehensive care plan that is unique to each child’s medical and developmental needs. Each child is seen by both Irina Anselm, MD, and Gerard T. Berry, MD, as well as genetic counselors who work to find the right diagnosis and tailor a treatment plan. We work closely with a variety of specialties including cardiology, genetics, endocrinology, hematology, gastroenterology and orthopedics.

Evaluating Your Child’s Symptoms

Making an accurate diagnosis may require children to have a number of different tests including:

  • biochemical tests on blood, urine, and/or spinal fluid
  • genetic testing
  • muscle or skin biopsy
  • MRI of the brain and/or spine
  • other specialized tests

We help to coordinate any necessary tests, and most of them can be performed here at Boston Children’s Hospital.

Prior records are very helpful to us in evaluating your child, especially if sent ahead of time. These can include:

  • letters from specialists seen outside Boston Children’s Hospital
  • results from any developmental assessments of the child
  • results from any genetic or other testing that may have been done outside Boston Children’s Hospital

Records can be faxed to 617-730-0285, or mailed to us at:

Neurometabolic Program
Boston Children’s Hospital
300 Longwood Avenue, Fegan 11
Boston, MA 02115

Managing Your Child’s Condition

Because neurometabolic disorders are so varied, and no child has the same symptoms, we work closely with families to develop an individualized care plan that takes both medical and developmental needs into account. This may include follow-up within the Neurometabolic Program as well as consultation and follow-up with other specialists. If at any time an inpatient stay is needed, our team will follow children during their stay.

We also work closely with Boston Children’s Hospital’s Manton Center for Orphan Disease Research, which is working to discover the genetic causes of many rare disorders. We sometimes refer patients there for whole-exome or whole-genome sequencing or offer the opportunity to join a research study.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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