ACTSI Continues Support of Annual Metabolic Camp

The Metabolic Camp at Emory celebrates its 21st anniversary this year. Rani H. Singh, PhD, RD, is the camp director, whose development of this research-based camp offers young women ages 12 and older with the rare disorders of Phenylketonuria (PKU) and Maple Syrup Urine Disease (MSUD) the opportunity to live and learn together in a supportive camp environment.

Singh is a professor of Human Genetics and Pediatrics and Director of the Genetic Metabolic Nutrition Program at Emory University School of Medicine. She focuses on nutritional care as an essential component for the management of genetic disorders. The Genetic Metabolic Nutrition Program offers an array of bionutrition support resources appropriate for research. Under her leadership, the program has become a national leader in innovative nutrition management, clinical and translational research, and public health collaborative efforts for patients with inborn errors of metabolism. This clinical research site was made possible in part by the Georgia CTSA Clinical Research Centers (GCRCs).

Singh currently has four running projects within the GCRCs, including the “Educational and social support interventions and their cumulative effect on pregnancy outcome and quality of life in teens with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD),” “Bone mineral density and turnover markers in patients with phenylketonuria,”  “The impact of docosahexaenoic acid status and phenylalanine control on neuropsychological status in females with phenylketonuria,” and “Baseline evaluation and long-term follow-up of nutritional status and neurotransmitter concentrations in Phenylketonuria patients initiating treatment with sapropterin dihydrochloride (KuvanTM), a tetrahydrobiopterin analog.” In addition, she has received an ACTSI Pilot Grant for her project, “The ability of Kuvan(R) (sapropterin dihydrochloride) to prevent meal-induced lipid peroxidation and endothelial dysfunction in patients with phenylketonuria: a pilot study.” Singh is also supported by ACTSI’s Biostatistics, Epidemiology, & Research Design (BERD) program, Biomedical Informatics Program (BIP), Pediatrics, and Community Engagement Research Program (CERP).

The Metabolic Camp is made possible through the collaboration of the Department of Human Genetics at Emory University School of Medicine, the ACTSI, and Emory’s Prevention Research Center at Rollins School of Public Health. This year’s camp took place over five days in June and consisted of thirty-four attendees. Registered dietitians from across the nation and around the world volunteer their time to serve as camp counselors, and students in nutrition, medicine, and genetic counseling provide support as assistant counselors and instructors.

PKU and MSUD are two diet-affected metabolic disorders which both involve deficiency in an enzyme that breaks down an amino acid into another compound. This means that the essential amino acid tends to build up in the body, causing problems. In PKU, this deficiency results in high levels of blood phenylalanine and an accumulation of phenylketones in the urine. In MSUD, the body’s inability to process the three branched-chain amino acids result in their elevated presence in the blood, as well as their by-products. Both, left to an unchanged diet, can lead to brain damage.  In addition, elevated phenylalanine levels during pregnancy can be very toxic to the unborn child in a similar manner to fetal alcohol syndrome.

This camp aims to teach the importance of nutrition and help the campers develop diet self-management skills, review the treatment recommendations of PKU and MSUD prior to and during pregnancy, to create a place to share experiences and make new friends with other young women who have PKU or MSUD, and to research the impact of the above interventions on the transition to adulthood, pregnancy, quality of life, and overall health outcomes. It is a one-of-a-kind experience that offers a holistic approach to these women’s method to managing their disorders. WATCH MORE

The ACTSI is a city-wide partnership between Emory, Morehouse School of Medicine, and Georgia Tech and is one of a national consortium striving to improve the way biomedical research is conducted across the country. The consortium, funded through the National Center for Advancing Translational Sciences one of the National Institutes of Health’s Clinical and Translational Science Awards (CTSA), shares a common vision to translate laboratory discoveries into treatments for patients, engage communities in clinical research efforts, and train the next generation of clinical investigators.