A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation

Chika Takano, Mika Ishige, Erika Ogawa, Hiromi Usui, Reiko Kagawa, Go Tajima, Ryoji Fujiki, Toshiyuki Fukao, Koichi Mizuta, Tatsuo Fuchigami, Shori Takahashi

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

Abstract

Classical MSUD is often fatal without appropriate medical interventions because of metabolic crisis. There are numerous reports suggesting the therapeutic potential of deceased donor liver transplantation for MSUD. However, the usefulness of LDLT for MSUD is unknown. We report a case of classical MSUD, which was successfully managed by LDLT from the patient's father at 1 year of age. Abnormal brain findings, which were cured with effective treatment, gradually disappeared after LDLT. The patient then developed normally. Findings from this case suggest the importance of LDLT for maintaining low leucine levels and subsequent normal neurological development. Although LDLT involves a modest surgical insult, LDLT with a related donor achieves acceptable leucine levels for life.

Original languageEnglish
Article numbere12948
JournalPediatric Transplantation
Volume21
Issue number5
DOIs
Publication statusPublished - Aug 2017

Keywords

  • living donor liver transplantation
  • magnetic resonance imaging
  • maple syrup urine disease

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