Dietary monitoring with amino acid analysis is crucial for management of many inborn errors of metabolism. The gold standard for this type of monitoring is plasma amino acid analysis, which offers quantitative results for more than 20 amino acids. Plasma analysis requires a blood draw with its associated costs, and often has a list price of over $100. Home monitoring using dried blood spots collected on filter paper (similar to what is used in newborn screening) can provide accurate results for a selected subset of amino acids important for a selected disorder, such as maple syrup urine disease (MSUD). This type of sample can be collected at home, and sent to the testing laboratory by regular mail.

The Biochemical Genetics Laboratory at EGL Genetic Diagnostics, LLC provides filter paper monitoring designed specifically for MSUD and phenylketonuria. Our MSUD filter paper assay provides quantitative values for valine, leucine, isoleucine and allo isoleucine, along with reference ranges, and a comparison to a targeted therapeutic range for leucine. Testing is done using liquid chromatography and tandem mass spectrometry. This assay is performed weekly and results are reported back to the ordering provider by fax. Turn-around time is seven days. Additional information about this assay can be found on our webpage (http://geneticslab. For the specimen, we require at least one completely filled and saturated circle on a standard filter paper card. Requisition forms are available on our website, and can be customized upon request. The tests are ordered through a clinician and no direct consumer testing is available.

Our team’s observations and feedback from the patients indicate that if fulfills a great gap to improve adherence to treatment. Our perspective indicates that patients receive the balanced and frequent nutrition therapy necessary to achieve optimal health and quality of life while remaining independent and comfortable in their own homes for most parts and yet connected to their clinicians. Frequent amino acid monitoring by this method in the outpatient setting along with proper diet analysis and management contributes significantly to improved outcomes. Nutrition management guideline for maple syrup urine disease including the monitoring section based on an evidence- and consensus-based approach are now available at Southeast Regional Genetics Collaborative (SERC) and Genetics Metabolic Dietitians International (GMDI) . For diet analysis you should contact your clinic dietitian.

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


A Child's Life

Subscribe to our mailing list

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