That pressure is real and ever-present for children born with the metabolic genetic disorders known as PKU (phenylketonuria) and MSUD (maple syrup urine disease, named after the odor of patients' urine). Both conditions must be controlled by lifelong adherence to special low-protein diets.
"As little as one gram of protein can negatively affect a child," said Rani Singh, the Emory biochemical nutritionist who, along with Barbara Kruse provides nutrition management to every PKU and MSUD patient in Georgia from birth through adulthood. Based on years of addressing the special needs of afflicted children and their parents, Singh has developed a model, research-based Metabolic Camp for young patients ages 11 to 18.
The Metabolic Camp, the first of its type on the east coast, was held July 23-29 on the Emory campus. In between swimming and sightseeing, 21 girls with either PKU or MSUD received intensive nutrition education and participated in all sorts of cooking demonstrations at the Clinical Research Center at Emory Hospital. Recipes have been carefully tested and analyzed by the clinical research dietitians. One evening the group was treated to a visit to Everybody's Pizza, a local restaurant whose management agreed to serve the girls pizzas made of special low-protein dough.
Emory psychologists led group discussions on coping with chronic disease, and Emory faculty from Emory/Grady Teen Services taught sex education -- including the importance of the diet during pregnancy.
"But one of the most important things the girls get out of the camp is the opportunity to make friends with kindred spirits," Singh said, "the chance to finally not feel so alone. This is the first time most of the girls have been able to go to camp since conventional camps are not set up to attend to their special needs."
Camp organizers hope that parents also will develop some much needed camaraderie. A special banquet was held July 28 to give local parents of children with metabolic disorders the chance to meet campers' parents.
"Even though many boys in Georgia are diagnosed with these metabolic abnormalities, we decided to target this first camp to teenage girls since they are at such high risk for delivering severely compromised babies should they become pregnant," Singh said. "Neither a male nor female who is a carrier for PKU or MSUD will parent a child with these conditions unless their spouse is a carrier too. So, even though a woman with PKU may not pass the condition on to her offspring, she is at risk for giving birth to a baby who is mentally or physically retarded 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. Data from the national Maternal PKU Collaboration Study suggest that prepregnancy metabolic status affects pregnancy outcome."
Persons with PKU are unable to process the vital amino acid phenylalanine. 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 one per 17,000 babies born in Georgia is diagnosed with PKU through the state-mandated newborn blood screening performed on the 110,000 babies born in Georgia each year. Since 1978, 95 babies were diagnosed with PKU; 11 of these were diagnosed in 1994. Ninety percent of PKU patients have blond hair and blue eyes.
MSUD is much rarer and poorly understood. Thirteen Georgia babies have been diagnosed with MSUD since 1978, reflecting an incidence of about 1 per 124,000 births. The effects of going off the diet are much graver for MSUD patients. Coma or death may occur.
- Lorri Preston