Successful living donor liver transplantation for classical maple syrup urine disease |
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| Authors: | Toshihiro Yasui Tatsuya Suzuki Fujio Hara Shunsuke Watanabe Naoko Uga Atsuki Naoe Tetsushi Yoshikawa Tetsuya Ito Yoko Nakajima Hiroki Miura Atsushi Sugioka Yutaro Kato Takamasa Tokoro Yoshinao Tanahashi Mureo Kasahara Akinari Fukuda Hiroki Kurahashi |
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| Affiliation: | 1. Department of Pediatric Surgery, Fujita Health University, Aichi, Japan;2. Department of Pediatric, Fujita Health University, Aichi, Japan;3. Department of Surgery, Fujita Health University, Aichi, Japan;4. Transplantation Center, National Center for Child Health and Development, Tokyo, Japan;5. Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan |
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| Abstract: | MSUD is an autosomal recessive condition characterized by a deficiency in the enzyme, BCKDH, which catalyzes the breakdown of BCAAs. If left untreated, MSUD can result in mental retardation, central nervous system disorders, and even death. Most patients with MSUD are treated with a restricted protein diet and milk from which BCAAs have been removed. LT has been shown effective in patients with MSUD. This report describes the case of a 15‐month‐old boy who received a liver graft from his mother. Transplantation was successful, and the patient was then able to ingest a normal diet. Despite episodes of acute rejection, chylous ascites, and high fever (40 °C), he has shown no evidence of MSUD recurrence. These findings indicate that patients with MSUD can be successfully treated by LDLT, even when the donor is a heterozygous carrier of a mutated BCKDH gene. |
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| Keywords: | maple syrup urine disease living donor liver transplantation domino liver transplantation heterozygous |
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