Newborn Screening and Inborn Errors of Metabolism Team
The state of Tennessee and surrounding states screen all newborns for a number of genetic disorders. When the test is positive, the Regional Genetic, Endocrine, or Hematology treatment centers in Memphis, Knoxville, or Nashville are notified. The primary care provider is also notified.
The Inborn Errors of Metabolism (IEM) Team is part of the UTHSC Medical Genetics Regional Treatment Center, and helps families manage disorders that are treatable by diet and medication. With early detection and conscientious dietary management, the possibilities of coma, death, mental retardation, or other disabilities in some IEM, can be reduced or eliminated.
There are over 25 different IEM disorders currently being treated by the Memphis IEM team, with the most commonly seen being phenylketonuria (PKU), medium chain acyl-CoA dehydrogenase deficiency (MCADD), galactosemia, and maple syrup urine disease (MSUD). Others include other amino acid disorders, organic acid disorders, carbohydrate and fatty acid disorders.
The IEM team provides diagnosis and interdisciplinary management for children and adults with metabolic disorders. Disciplines include Metabolic Nutrition, Metabolic Genetics, Social Work and Psychology. Other disciplines serve as consultants as needed. Most patients need regular follow-up from infancy through adulthood, with frequent visits required for the infant and young child.
Close coordination among the IEM team, the family, primary care provider, and other local care providers (such as health department, WIC, CSS, etc.), is required to deal with the complex problems presented. The interdisciplinary approach to IEM disorders treatable by dietary intervention is recommended by the American Academy of Pediatrics.
- Information about TN’s newborn screening program: http://health.state.tn.us/MCH/NBS.shtml#1
- Information about IEM and other rare disorders, including an index of over 2,000 patient organization and other sources of help: National Organization of Rare Disorders (NORD) http://www.rarediseases.org/
- Information about all 50 states and current screening tests, and other NBS information, can be found at http://genes-r-us.uthscsa.edu/
For further information, contact Lee Wallace, IEM Team Metabolic Nutritionist, 901-448-6451, BCDD, 711 Jefferson Avenue, Memphis TN 38105; or Dr. Jewell Ward, Medical Genetics, 901-448-6595.
711 Jefferson Avenue
Memphis, Tennessee 38105