A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation. (14th June 2017)

• Record Type: Journal Article
• Authors: Takano, Chika; Ishige, Mika; Ogawa, Erika; Usui, Hiromi; Kagawa, Reiko; Tajima, Go; Fujiki, Ryoji; Fukao, Toshiyuki; Mizuta, Koichi; Fuchigami, Tatsuo; Takahashi, Shori
• Is Part Of: Pediatric transplantation. Volume 21:Number 5(2017)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2017-06-14
• Subjects: living donor liver transplantation -- magnetic resonance imaging -- maple syrup urine disease; Transplantation of organs, tissues, etc. in children -- Periodicals; 617.95408305
• DOI: 10.1111/petr.12948
• Languages: English
• ISSNs: 1397-3142

Abstract

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.