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.


In the 2016 survey of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was rated “most important” by 90% of the responding members.

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NBS-MSUD Connect: Advancing MSUD Research And More


Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

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Our Story

On April 23 2015, our precious firstborn son Eliyahu Tuvia was born in Jacksonville, FL. All seemed well and we took our bundle of joy home.

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As our legislators headed home for their August break, Rare Disease Legislative Advocates got busy.

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Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

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Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

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A Child's Life

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