This edition of our newsletter has a number of heartening pieces. In our cover piece, Dr. Zinnanti describes his work with Dr. Skvorak and their progress using norleucine to help prevent the brain damage that can occur when leucine levels are high. Inside, Dr. Skvorak further describes this work and also her successes transplanting healthy liver cells into MSUD mice. In years to come this may provide an alternative to whole organ liver transplant. We hope that their work continues to go well and that they are able to conduct human studies soon. In another treatment advance, Coram, Inc. describes their BCAA-free TPN and its uses in critical care. I am hopeful that one day in the not-to-distant future we will have protection against the decompensation that occurs when those with MSUD become ill.

We also hear from several of our older members about their experiences with college life and their advice to others who are contemplating taking this step. How amazing is it that our children have this opportunity, and are able to manage it safely! This information is particularly reassuring for me, as Hannah is a high school sophomore this year. She is now preparing her own formula and keeping track of her leucine intake. She has had the benefit of a second summer at the Emory Metabolic Camp, which has also helped her achieve greater independence, and is very much looking forward to a college career!

Two heartwarming accounts of living with MSUD under less-than-optimal circumstances are related by the Blaus and Joyce Brubacher. The Blau’s daughter Cindy is the oldest person living with MSUD, and her story shows us how far we’ve come and how we all benefit from the experiences of those who came before us. The Brubacher’s trip to Central America also shows us here in the US how others manage under adversity, and remind us of how fortunate we are.

As for our family, we stayed home this summer. After her week at Emory, Hannah has spent the summer in a theater arts camp and loves it. Weather permitting, she rides her bike there and back with her formula and food for the day packed in her backpack. In between those two experiences, we were visited by the Bulcher family. We all went out for a wonderful pasta dinner complete with Italian ices in New York City’s Little Italy. A great time was had by all.

As we say goodbye to summer, be sure to make note of the 2010 MSUD Symposium to be held in the Chicago area next June. Also, please be sure to take a look at our new website at which Eddy Wang has been working so hard on. It has a link to my email address, so please drop me a line and let me know how you like the newsletter and whether you have any ideas for future stories.

Karen Dolins, Newsletter Editor

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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