Emory Metabolic Genetics and Nutrition Program

Metabolic Genetics and Nutrition Clinic

The metabolic genetics and nutrition clinic offers children and adults comprehensive evaluation and compassionate care for more than 50 inherited metabolic disorders (IMD), including PKU, galactosemia, and MSUD. Our team consists of clinical geneticists, metabolic dietitians, and genetic counselors. In addition to evaluating and managing both children and adults with inherited metabolic disorders, our metabolic team also conducts clinical research and hosts a research-based metabolic summer camp.

If you have questions about our metabolic clinic, or if you would like to make an appointment in our metabolic clinic, please call 404-778-8570.

About Emory Metabolic Genetics and Nutrition Program

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 404-778-8570.

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 under the direction of faculty nutritionist 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; and Research.

For more information call 404-778-8570.

Metabolic Nutrition Team

Rani H. Singh, PhD, RD
Director, Metabolic Nutrition Program

Ashley Park, MS, RD, LD
Metabolic Dietitian

Meg Patterson, MS, RD, LD
Metabolic Dietitian

Kristen Narlow, MS, RD, LD, CC
Research Dietitian/Chef
Supervisor, Research Nutrition

Rosalynn Borlaza Blair, MA
Program Coordinator

Saran Raj Gurung
Program Coordinator

Tammy Scott
Program Coordinator

Mary Lauren Salvatore, MPH, CHES
Public Health Program Associate

Teresa D. Douglas, PhD, MS
Senior Postdoctoral Fellow

PNO-METAB-L: Listserv for Registered Metabolic Dietitians

GNO-Metabolic Listserv (formerly PNO-METAB-L...) was created under the auspices of grant money allocated by the Southeastern Regional Genetics Group (SERGG), with the intent of facilitating communication between metabolic nutritionists in the hope of fostering professional development as well as improving delivery of nutrition care to the inborn errors of metabolism patient population.

To sign up, please complete the https://genetics.emory.edu/pnometabolic/

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

To view a video about Metabolic Camp, go to: http://news.emory.edu/stories/2015/07/video_metabolic_camp/

For more information about the camp, visit metcamp.net or contact Rosalynn Borlaza Blair (Camp Coordinator) at (404) 778-8521, or rborlaz@emory.edu.