Metabolic Disorders & Food
When Managing Your Food Can Be Vital
Rani Singh, PhD, Director of Metabolic Nutrition Program, Division of Medical Genetics at Emory, has spent years working toward an educational solution for the thousands of patients suffering from metabolic disorders that can be managed through nutrition. The disorders range from phenylketonuria (PKU) to Urea Cycle Disorders (UCD) and often have minimal negative health effects when properly managed early in life through diet. Typically, this involves avoiding or regulating intake of specific amino acids or compounds. Unlike many other disorders, many genetic metabolic disorders necessitate management through lifestyle choices rather than only a drug or supplement. This means the patient, and everyone involved in the patient’s life, needs information about the disorder and its management. This information is often complicated, and there is no streamlined source for patient reference beyond their physicians.
After seeing the lack of functional knowledge provided for this population through her work in the field, Singh realized how few resources are available for these patients. Individuals with these disorders must diligently monitor food intake and adhere to strict nutritional guidelines in order to monitor their conditions. Oftentimes these disorders are diagnosed in children or newborns, which means that parents have to learn the guidelines, make proper choices in the grocery store, and cook with these new specific rules.
Singh created a pocket-sized solution: a small, convenient informational booklet. The booklet is about thirty-five pages and serves as a reference for patients and their families. For example, if the mother of a child with PKU needed to check a nutritional limit while grocery shopping, she could simply pull out the booklet as a reference. Foods are classified in the booklet based on compounds and amino acids specific to the various metabolic disorders and it provides clear guidelines for making appropriate food choices. Singh created this booklet at a high school reading level and developed concise summaries of highly complex disorders and provided details for improved management. The booklet is a tool for patients, but it can also help improve broad level community understanding of the signs, symptoms, and experience of metabolic disorders.
Although genetic metabolic disorders are relatively rare, the patient population is in dire need of improved management strategies. Ideally, Singh would like to see this technology progress to become a mobile application, but for now she is thrilled to see the development take off, saying, “this helps the community and Emory’s expertise can help the University take a leadership role in care management and education for metabolic disorders, particularly those identified through state newborn screening program .” Singh continues to update the booklet and is currently working with parent organizations and drug companies to distribute this resource to help optimize nutritional therapy for those with metabolic disorders.
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