At Emory University's annual research-based Metabolic Camp, now in its 20th summer, adolescent girls with inherited metabolic disorders learn to take over the lifelong responsibility for managing for their own diets and their own health.
As little as one gram of protein can cause irreversible brain damage or death for children with inherited metabolic disorders such as phenylketonuria (PKU) or maple syrup urine disease (MSUD). These and other rare inherited metabolic disorders affect how the body can process protein. With early detection through Georgia's newborn screening program, these children can grow to live normal lives, but they must learn early in childhood to adhere to a special low-protein diet consisting mainly of a specialized medical formula, along with fruits and vegetables.
Metabolic Camp is a collaboration between the Department of Human Genetics at Emory University School of Medicine and the Atlanta Clinical and Translational Science Institute (ACTSI), an NIH-supported, Emory-led research partnership.
Metabolic Camp not only provides health education in a fun learning environment, but the campers also contribute to new knowledge about their disease by participating in clinical research projects. The camp also serves as a forum for many students, genetic counselors, and medical, nutrition and nursing providers to meet and learn from these patients.
This year's camp, scheduled for June 23-28 on Emory's campus, will include 30 campers, one of whom is from Madrid, Spain and was the first in her country to be diagnosed with PKU. Two camp alumni, currently training to become metabolic dietitians, will return to camp as volunteers.
Camp includes traditional activities such as arts, crafts, recreational sporting events and field trips, but also sessions with genetic counselors, metabolic dietitians and nutrition students who volunteer their time and introduce creative recipes, formulas and other strategies to keep the girls healthy throughout life. Females, especially, must follow specific diets before and during pregnancy to avoid maternal PKU (MPKU) and prevent mental retardation in their children.
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.
"Metabolic Camp has had a tremendous impact not only on the quality of life of girls over the years but also on the outcome of the next generation from this patient population. If we do not help these girls to be on strict diets during pregnancy we may negate the effects of newborn screening. We at Emory have been one of the leading national MPKU camps," says Rani Singh, PhD, RD, camp director, biochemical nutritionist, and professor of human genetics in Emory University School of Medicine.
"Most of these children can't attend other camps because of their special dietary needs, and this allows them to interact with other children and feel less isolated, while learning things that can save their lives and the lives of their future children," says Singh.
Emory's resources for PKU and MSUD patients aren't restricted to summer camps. The Emory Genetics Metabolic Program, located at 2165 North Decatur Road in Decatur, offers one of the leading metabolic clinics for patients diagnosed with inherited metabolic disorders. Patients and their family members can come to one location and receive medical care, get guidance on special foods, and gather for support groups and education sessions.
For more information about the Metabolic Camp, please visit metcamp.net and contact Rosalynn Borlaza Blair (Program Coordinator) at rborlaz@emory.edu, or 404-778-8521.