Department of Health and Human Services, National Institutes of Health’s Office of Rare Diseases, the National Institute of Neurological Disorders and Stroke, FDA Center for Drug Evaluation and Research

Concurrent with the workshop on Newborn Screening, this meeting took place in an adjacent room. The purpose of the meeting was to review and discuss the difficulties in translating preclinical studies in animals to clinical trials in humans.

Individuals with IEM have a range of functioning, which may vary with the specific mutation. The neurological effects of disease over time are virtually unknown. The presenters noted that researching inborn errors of metabolism (IEM) is made particularly challenging by their rarity, ethical issues in studying children, and the fact that it is extremely difficult to study the impact of disease and its treatment on the brain. What is clear is that IEM, including MSUD, are diseases which affect the nervous system. As such, the individual may not be functioning optimally even when well controlled.

The opening speaker noted that while attempts to treat IEM with stem cell transplant or enzyme enhancement have been unsatisfactory to date, advances in biology and technical tools used to manipulate cells have occurred.

Lay organizations such as ours are invaluable to scientists as parents and patients teach the doctors, conduct fundraising to support research, and act as advocates to legislators. The speaker noted that organizations which raise money for research must have a scientific advisory board to review grant applications. An independent assessment is needed to evaluate the scientific credibility of the proposed research and to balance the risk with potential benefit.

The room was filled with physicians, researchers, public health officials, psychologists, genetic counselors, representatives of support groups, pharmacologists, and more. As I observed all these individuals, organizations, and medical institutions speak of the need to collaborate, I felt a real hope that a breakthrough will occur.

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.

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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.

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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.

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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.

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Emory Metabolic Camp 2018 Announcement

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

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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.

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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.

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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

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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.

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A Child's Life

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