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From Research to Reality: Addressing the Dietary Challenges of BH4, an Emerging Therapeutic Option for PKU

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The Division of Medical Genetics offers children and adults comprehensive evaluation and care for inherited disorders of metabolism. Metabolic disorders affect how the body processes food into energy. Newborn screening, which is used to detect metabolic disorders, began in 1962 to help assure prompt treatment. Infants and children with metabolic disorders are referred to the Emory Genetics Pediatric Metabolic Clinic for diagnosis and treatment by calling (404)778-8566.

Each year, geneticists, nutritionists, and genetic counselors from Emory are responsible for the follow-up of nearly 5000 abnormal newborn screening tests and the treatment of over 250 children with metabolic disorders. Emory Genetics is helping the state of Georgia expand the newborn screening program to test for nearly 40 additional disorders. The eight conditions listed below are currently screened and can cause early death or disability unless quickly diagnosed and treated.

• Phenylketonuria (PKU)
• Maple Syrup Urine Disease (MSUD)
• Homocystinuria
• Tyrosinemia
• Galactosemia
• Congenital Hypothyroidism
• Congenital Adrenal Hyperplasia (CAH)
• Sickle Cell Disease & Related Disorders

Emory Genetics provides follow-up testing and management guidelines for the Newborn Screening Program of Georgia. The nutritional program is administered by Rani H. Singh, Ph.D. R.D., and is one of the nationally leading programs offering complete services to manage metabolic disorders including: Inpatient and Outpatient Nutrition Management; Diet and Formula Instruction; Computer Diet Analysis; Medical Foods Distribution Center; Metabolic Food Store; Cooking Classes; Group Classes; and Research.

For more information call (404)778-8566.

Metabolic Nutrition Team
Rani H. Singh, Ph.D., R.D.
Director, Metabolic Nutrition Program

Rosalynn R. Borlaza, M.A.
Program Coordinator

Mary Jane Kennedy, R.N.
Research Coordinator

Margaret F. Pedersen, RD
Nutrition Research Manager, Clinical Co-Manager

Jennifer Terry, M.P.H., R.D.
Metabolic Dietitian, Clinical Co-Manager

Kristen M. Narlow, M.S., R.D., L.D., C.C.
Clinical Nutritionist/Chef

Jamie M. Lewis
Formula Coordinator

Alisha S. Keehn, M.P.A.
Region 3 Collaborative Project Director

Mary Brauchla, MPH
Project Coordinator

Courtney Coleman
Research Project Coordinator

Metabolic Camp
The faculty and staff of the Division of Medical Genetics conduct a one-week summer camp on the campus of Emory University for young women, ages 12 and up, who have phenylketonuria (PKU) or maple syrup urine disease (MSUD). The camp began in 1995 and is currently directed by Rani H. Singh, Ph.D., R.D. Young women attending the camp are involved in a range of activities for education and support including:

• Nutrition and development of diet self-management skills
• Review of treatment recommendations of PKU and MSUD prior to and during pregnancy
• Sharing of experiences and making new friends with other women who have PKU or MSUD

The camp concludes each year with a banquet for campers, their parents, the genetics faculty, and other healthcare professionals.

For more information about the camp, contact Rosalynn Borlaza (Camp Coordinator) at (404) 778-8521, or visit us at http://www.metcamp.org.