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Inborn Errors of Metabolism

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. Patients with IEM are now treated through the Division of Medical Genetics within the Methodist Le Bonheur Healthcare system.  With early detection and conscientious dietary management, the possibilities of coma, death, intellectual disability, 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),  urea cycle disorders (UCD), galactosemia (GAL), 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.

May 26, 2022