Treatment for children with MSUD should start as soon as diagnosed and focus on a carefully controlled diet.
The cornerstone to treatment is a restriction of dietary protein and reliance on a medical formula to provide nutrient needs.
Medical Formula Management:
The core management of MSUD is a special “medical food” or formula. This formula provides all the nutrients a child needs except three specific amino acids—leucine, isoleucine, and valine—that the body cannot process properly. These amino acids are added in precise amounts based on regular monitoring of the child’s growth and blood levels.
Dietary Management:
Foods that contain protein are very limited. This carefully managed diet gives the child enough protein to grow and develop while preventing harmful buildup of amino acids in the blood. Lifelong monitoring and close medical supervision are essential. Illness, stress, or eating too much protein from regular food can raise amino acid levels and their toxic byproducts in the blood. Even a mild illness can become dangerous if amino acid levels cannot be regulated. During these times, doctors may recommend diet changes, more frequent analysis of amino acid and keto acid levels in the blood and urine, or hospitalization to manage MSUD.
Liver Transplantation Treatment:
Branched-chain amino acids are processed in tissues throughout the body, including muscles and organs, but the liver plays a major role in breaking down the amino acids affected by MSUD. Because of this, a liver transplant can be a treatment option. A healthy donor liver provides enough enzyme activity to allow a person with MSUD to eat a normal diet and avoid metabolic crises during illness. In rare cases, elevated amino acid levels have been seen in some transplanted individuals during illness.
It’s important to know that a transplant does not remove the abnormal gene. A person born with MSUD will still carry the gene and can pass it on to their children.
Key Considerations for Liver Transplantation:
Benefits
- Ability to eat a normal diet
- Reduced risk of metabolic crisis
- Improved quality of life
- Potential for domino transplant to help others
Risks & Considerations
- Surgical risks and complications
- Lifelong immunosuppression
- Potential for organ rejection
- MSUD gene is still present
Expert Webinar
Liver Transplant for MSUD: Outcomes, Challenges, and Long Term Perspectives
George V. Mazariegos, MD, FACS
Chief, Pediatric Transplantation, Professor of Surgery and Critical Care,
University of Pittsburgh School of Medicine