No meat or dairy products. As little as one gram of protein can affect a child with phenylketonuria (PKU) or maple syrup urine disease (MSUD). Both are rare inherited metabolic disorders detected by State Newborn Screening programs, and affected children must be educated early about the importance of adhering to a lifelong special low-protein diet.
Though parents initially carry the responsibility of monitoring the diets of their affected young children, adolescents must be equipped to make the transitions to independently manage their diets. After years of addressing the special needs of children and their parents, Emory biochemical nutritionist Rani Singh, PhD, RD, LD, developed a model, research-based metabolic camp in 1995. The camp for young female patients is held every summer.
The 11th annual Metabolic Camp is scheduled for June 20-25 on the Emory University campus. In between sports activities and local field trips, 36 girls with PKU, MSUD and other metabolic disorders, will attend sessions with Emory genetic counselors to discuss the genetics and recurrent risks of metabolic disorders. They'll also be introduced to new low protein recipes and formulas -- the medical foods that are the source of their major nutrition.
Female patients, especially, must follow specifications before and during pregnancy to prevent mental retardation of their children. During the camp, Planned Parenthood representatives will discuss issues related to reproductive choices, and for the third year, local boys with metabolic disorders will join the campers for those sessions.
"The camp is a great place for the girls to share their experiences and glean support from each other. It's targeted to girls, because as women, they're at such high risk for delivering severely compromised babies should they become pregnant," says Dr. Singh, assistant professor and director of the nutrition program, Division of Medical Genetics, Emory University School of Medicine. "It's important that they develop diet self-management skills and learn how to manage their metabolic disorders prior to and during pregnancy."
"In the absence of dietary control in women with PKU who become pregnant, it is estimated that exposure of the fetus to the teratogenic effects of maternal hyperphenylalaninemia could result in an increase in the incidence of PKU-related mental retardation to the level seen before PKU screening was established," Dr. Singh explains.
In an effort to stress the importance of adhering to diet restrictions, the campers will be visited by a mother with PKU whose inconsistency with her diet caused mental retardation in her child.
Persons with PKU are unable to process the vital amino acid phenylalanine (PHE). PHE is found in all protein-rich foods such as meat, fish, eggs, dairy products, and to a lesser degree in cereals, grains and legumes. In affected people, the amino acid builds up and becomes so toxic it can cause mental retardation, particularly in young patients whose brain and nervous system are still growing.
Emory's resources for PKU and MSUD patients aren't restricted to summer camps. The Emory Genetics Metabolic Nutrition Program is located 2165 North Decatur Road in Decatur. The site offers "one-stop shopping" for patients diagnosed with inborn errors of metabolism. Patients and their family members can come to one location and receive medical care, buy special foods from a low-protein grocery store, and gather for support groups and education sessions. It is also the location for their dietary formula distribution center.
For more information about the Emory Genetics Metabolic Nutrition Program or the Metabolic Camp, please contact Rosalynn Borlaza (404) 778-8566 or visit www.metcamp.org.