| 
Emory tests four home monitoring devices for PKU in groundbreaking study PDF Print E-mail
Written by Emory University   

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

 

 

 

Comments (0)
Only registered users can write comments!

!joomlacomment 4.0 Copyright (C) 2009 Compojoom.com . All rights reserved."

Last Updated on Friday, September 23 2016 09:46
 

Related Links

Related linksFollow MSUD related links for more information about specific topics. These include information on diet, nutritions, medical foods, associations, organizations and research.

Visit Related Links

Make a donation

DonationThe MSUD Family Support Group is a 501(c)(3) non-profit organization with no paid staff. Funds are needed for genetics research, diet, related behaviors and on-going studies for improved treatment.

Make a Donation

Physician Network

Physician networkHelp introduce your primary professionals. Currently we are in need of contacts for the following locations: India, United Kingdom, Australia, USA (Midwest), South America.

See the Physician Directory

MSUD Forum

Have a sayOpen to members only, the official MSUD forum is the place for sharing knowledge and asking questions. We encourage members to use this resource for better management of MSUD.

Visit the Forum

MSUD Events

Current eventsGet up, get out. Find local events in your town or across the world. Find something fun, informative, and healthy to enjoy. Browse the listings, or post an event in your location.

See current Events

Diet Wise

Low Protein FoodsBrowse the various recipes for low-protein foods and information. You can also submit your own receipe to share with our MSUD community.

See the Recipes


© 2017 MSUD Family Support Group

The information presented on this web site is for educational purposes. It does not replace medical consultation. The MSUD (Maple Syrup Urine Disease) Family Support Group is not liable for the application of this information or any errors therein.

Visit us on Facebook

Footer Logo