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Heterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: A case report.
Patel, N., Loveland, J., Zuckerman, M., Moshesh, P., Britz, R., & Botha, J. (2015). Pediatric transplantation, 19(3), E62-E65.



This case report describes the liver transplantation of a 2.5 year old child who received a portion of his mother’s liver. An initial graft rejection was successfully managed, and the child has been able to tolerate a normal diet without protein restriction. He lost weight initially and developed a respiratory tract infection, but blood BCAA levels have remained normal. The authors suggest that relatives can be a safe source of donor livers when an unrelated liver is not available.

Acute Metabolic Crisis in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor.
Al-Shamsi, A., Baker, A., Dhawan, A., & Hertecant, J. (2016).

This case report describes a metabolic crisis in a 20 month old child who had received a liver transplant 5 months earlier from a parent, who carried the defective MSUD gene. The child did well after transplant until developing a gastrointestinal infection. Blood levels of leucine, isoleucine and valine were all elevated indicating an inability to completely process branched-chain amino acids during illness, and the child experienced seizures and encephalopathy.

Individuals undergoing liver transplantation typically receive livers from non-related donors who do not carry the gene for MSUD. As both parents must carry this gene for a child to have the disease, parents have historically not been considered as donors. More recently, though, there have been a number of reports in which parents have successfully donated a part of their liver to their child with MSUD. The authors of this case report recommend continued metabolic monitoring post-transplant, particularly in the case of a parent donor and when infections occur.

Development of Carrier Testing for Common Inborn Errors of Metabolism in the Wisconsin Plain Population
Kuhl A, van Calcar S, Baker M, Seroogy CM, Rice G, Schwoerer S (2016). Genetics in Medicine Aug 11. doi: 10.1038/gim.2016.104.

A statewide outreach project was developed through the University of Wisconsin Biochemical Genetics Clinic and the Wisconsin Newborn Screening Program to identify members of the Plain population who are at risk for having children with maple syrup urine disease (MSUD) or propionic acidemia (PA). Blood spot testing kits were distributed through health care providers and information about the initiative was provided through state midwives and Plain population meetings. Eighty individuals were tested, and genetic counseling and follow up diagnostic testing was provided for those identifi ed as at risk for having a child with PA (none were identifi ed as at risk for having a child with MSUD).

Early identifi cation of at-risk couples will allow for early treatment of at-risk babies during the newborn period, improving long term outcomes.



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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