In a new video, a mother explains what is involved in monitoring her son's phenylalanine concentrations and genetics nutritionist Dr. Rani Singh explains PKU and why she is pushing for a home-monitoring device.

Watch the video

In the first study of its kind, Emory University's Department of Human Genetics is collaborating with the National PKU Alliance to test four home monitoring devices for phenylketonuria (PKU) patients.

Children and adults with PKU (an inherited metabolic disorder) cannot break down the amino acid phenylalanine in the body. High phenylalanine levels in the blood can cause irreversible brain damage. Universal public health newborn screening can identify the disease, however, and with successful treatment from birth blood phenylalanine can be normalized.

Patients with PKU must follow a low-protein diet to limit phenylalanine intake and must also consume synthetic medical food to provide a phenylalanine-free source of protein. As in individuals with diabetes, it is important that patients with PKU monitor blood phenylalanine concentrations regularly across the lifespan. Monitoring blood phenylalanine provides an opportunity to evaluate the impact of dietary and medical treatment.

Currently, patients and families must visit a metabolic clinic or send a filter paper from home so clinicians can measure blood phenylalanine concentrations, which can be a burden for patients. A real time, point-of-care and home phenylalanine monitoring system, similar to a blood glucose monitor for diabetes, would provide patients with quick results and feedback.

The National PKU Alliance Scientific Committee selected four phenylalanine prototype devices from a pool of candidates to be tested in this pilot study. Eight PKU patients (children and adults) from the Department of Human Genetics Metabolic Clinic in Emory University School of Medicine, and one patient without PKU, were recruited to participate in the study. The Emory Genetics Lab will use the patients' blood to compare the results of each of the four devices to the current gold-standard in phenylalanine monitoring – plasma concentration.

The results will be summarized and reported to the PKU Alliance Scientific Board as preliminary data for any further validation studies.

"Emory is excited to be involved in this groundbreaking study," says genetics nutritionist Rani Singh, PhD, director of Emory's Genetics Metabolic Nutrition Program. "This study has the potential to change PKU management and improve outcomes for patients."

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