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June 28, 2002


'Metabolic Camp' Offers Fun, Education and Fellowship to Girls with Genetic Disorders

Children living with rare inherited metabolic disorders known as PKU (phenylketonuria) and MSUD (maple syrup urine disease) often live lives of isolation. Their conditions must be controlled by lifelong adherence to strict special low-protein diets — especially for female patients before and during pregnancy to prevent mental retardation of their child.

Now in its 8th year, the Metabolic Camp at Emory University seeks to aid in the transition from childhood to adulthood for young female patients attending the camp. This year, 32 campers, age 12 and older, will convene on the Emory University campus from June 25-30.

"Ultimately, we want to impact the quality of life for the campers," says Camp Director Rani H. Singh, Ph.D., R.D. "As they enter adulthood, they need to develop diet self-management skills and become more independent."

As a biochemical nutritionist, Dr. Singh and her staff provide nutrition management to every PKU and MSUD patient in Georgia from birth to childhood. After years of addressing the special needs of afflicted children and their parents, Dr. Singh developed the model, research-based metabolic camp in 1995 for young female patients.

"We've noticed a tremendous affect on patients, and a decrease in isolation just during the one week of camp," Dr. Singh says. "We're working to develop a national system of networking and resources to continue beyond camp."

In between sports activities and local field trips, the campers will receive intensive education from Emory nutritionists and genetic counselors. Presentations will include Diet and PKU, Monitoring and Management Issues with PKU, Healthy Mind, Health Body, and Maternal PKU. They will also participate in various cooking demonstrations to learn different preparation methods for the restricted foods in their diets. The recipes have been carefully tested and analyzed by Erica Lesperance, R.D., who works with Dr. Singh, and other clinical research dieticians.

Dr. Singh says most PKU or MSUD patients may not attend conventional camps because they are not set up to meet their special dietary needs.

"One of the most important things the girls will get out of the camp will be the opportunity to make friends with kindred spirits."

Camp organizers are hoping that parents, too, will develop some much-needed camaraderie. A special banquet on June 29 will give local parents of children with metabolic disorders the chance to meet other campers' parents.

Although many boys in Georgia are diagnosed with PKU and MSUD, the camp targets teenage girls since they are at such high risk for delivering severely compromised babies should they become pregnant, Dr. Singh explained.

Both the mother and the father have to be a carrier for PKU or MSUD for a child to inherit the disease. But even though a woman with PKU may not necessarily pass the condition to her offspring, she is at high risk for giving birth to a mentally or physically retarded baby if she does not follow the diet before and during pregnancy.

"We want to emphasize to these girls the importance of planning pregnancies so that they are following the diet before conception," Dr. Singh said.

About the Diseases

  • Persons with PKU (phenylketonuria) are unable to process the vital amino acid phenylalanine (PHE). PHE is found in all protein foods such as meat, fish, eggs, dairy products, and to a lower 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. Adhering to a low-protein diet augmented with "medical foods" and special amino acid formulas is the primary means of controlling both PKU and MSUD. Straying from the food plan leads to reduced I.Q. and mental retardation in PKU patients.
  • About 1 in 12,000 babies born in the United States is diagnosed with PKU. There is a state-mandated newborn screening performed on Georgian babies each year.
  • Georgia currently has close to 150 PKU patients.

  • Maple Syrup Urine Disease is much rarer and poorly understood.
  • MSUD occurs in approximately 1 per 129,000 births.
  • The effects of going off the diet are more grave for MSUD patients. Coma or death may occur.


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