Liver Transplantation as a Treatment Option for MSUD
Branched-chain amino acids are metabolized mostly in muscle, but liver transplantation has been found to provide enough enzyme activity to allow the person with MSUD to eat a normal diet and in most cases avoid a metabolic crisis when ill. Liver transplantation is not a true cure as the gene for MSUD remains and can still be passed to offspring. It is important to note that elevated branched chain amino acid levels have been observed in some transplanted individuals during illness. The liver from the recipient is sometimes transplanted into another person needing a liver which is called a domino transplant.
Medical therapy and transplant both carry risk. For the individual with MSUD, metabolic decompensation is always a possibility. Transplant carries risk for potential complications including rejection and the need for immunosuppressive medications.
It is important to talk to your metabolic team to determine the best option for you or your child with MSUD.