Newborn Screening and Inborn Errors
of Metabolism Team
About the Program
The State of Tennessee screens all newborns for a number of genetic disorders. When a test is positive, the primary physician is notified, as is the regional treatment center in Knoxville, Nashville, or Memphis. For more information on the state's newborn screening program, visit Tennessee's Genetics and Newborn Screening website.
These regional referrals from the Tennessee state newborn screening program for phenylketonuria (PKU), galactosemia, biotinidase deficiency, maple syrup urine disease (MSUD), homocystinuria, and medium chain acyl CoA dehydrogenase (MCAD) deficiency, constitute the largest group of patients currently followed in the Boling Center's Inborn Errors of Metabolism (IEM) team. Referrals may also come from other medical professionals.
The IEM team provides interdisciplinary diagnosis
and management for children and adults with these and other genetically based metabolic disorders. Disciplines
that lend their expertise are nutrition, pediatrics, biochemical genetics, psychology,
and social work. Other disciplines serve as consultants as needed.
Hereditary
metabolic disorders that can be treated by diet and medication, such as amino acidemias and acidurias, and organic acidemias and acidurias,
carbohydrate and fatty acid disorders, have long been a specialty of the clinic.
Most of the patients need regular follow-up from infancy through adulthood, with
frequent visits required for the infant and young child. The exciting focus of
this clinic is the prevention of mental retardation and other disabilities through
early detection and conscientious dietary management.
Close coordination among the
IEM team, the family, and local care providers, such as the health department, is required
to deal with the complex problems presented. The interdisciplinary approach to
those IEM disorders treatable by dietary intervention is recommended by the American
Academy of Pediatrics. Contact For further information, contact
the IEM Coordinator, BCDD, 711 Jefferson Avenue, Memphis, TN 38105. Back
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