Search

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."

Orginal source of article: http://news.emory.edu/stories/2015/05/pku_monitoring_device/index.html

 

 

 

Melvin Carruth

This letter is a tribute to my brother Melvin Carruth! We believe he is one of the oldest living African Americans with Maple Syrup Urine Disease.

Read More

NBS-MSUD Connect: Your One-Stop Shop For MSUD Resources

NBS-MSUD Connect was launched as part of the Newborn Screening Connect patient registry (NBS Connect) in 2013 through a partnership between the Department of Human Genetics at Emory University, the Maple Syrup Urine Disease (MSUD) Family Support Group and other key stakeholders.

Read More

Cambrooke Therapeutics

Cambrooke Therapeutics continues to expand its line of delicious and nutritious low protein foods to help improve the lives of individuals with Inborn Errors of Metabolism such as MSUD.

Read More

Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

Read More

Emory Metabolic Camp 2018 Announcement

Join us June 18-23, 2018 for the 24th Annual Metabolic Camp at Emory University in Atlanta, GA!

Read More

From The Chairman’s Desk

As I sit here reflecting on how much the care and treatment of MSUD has changed over the years, my mind goes back to 1978 when our son Keith was born.

Read More

MSUD Advocacy Report

Medical Nutrition Equity Act

The Medical Nutrition Equity Act (MNEA) would require all private insurance plans (state regulated or self-insured/self-funded) and federal health programs, including Children’s Health Insurance Program, Tricare, Medicaid, Medicare, and Federal Employee Health Benefit Plans, to provide coverage for formula and low-protein foods for all children and adults with MSUD.

Read More

The MSUD Family Support Group Is Excited To Announce Their Participation In The Million Dollar Bike Ride

The MSUD Family Support Group is excited to announce their participation in The Million Dollar Bike Ride

Read More

19th Biennial MSUD Symposium

I can’t believe that almost two years have passed and it is time for another MSUD Symposium! I am especially excited about this conference because I’ve built in extra time for social interaction.

Read More

Change the lives

of MSUD adults and children

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates