Successful living donor liver transplantation for classical maple syrup urine disease.
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.
Department of Pediatric Surgery, Fujita Health University, Aichi, Japan.
Toshihiro
T
Yasui
Department of Pediatric Surgery, Fujita Health University, Aichi, Japan.
Tatsuya
T
Suzuki
Department of Pediatric Surgery, Fujita Health University, Aichi, Japan.
Fujio
F
Hara
Department of Pediatric Surgery, Fujita Health University, Aichi, Japan.
Shunsuke
S
Watanabe
Department of Pediatric Surgery, Fujita Health University, Aichi, Japan.
Naoko
N
Uga
Department of Pediatric Surgery, Fujita Health University, Aichi, Japan.
Atsuki
A
Naoe
Department of Pediatric, Fujita Health University, Aichi, Japan.
Tetsushi
T
Yoshikawa
Department of Pediatric, Fujita Health University, Aichi, Japan.
Tetsuya
T
Ito
Department of Pediatric, Fujita Health University, Aichi, Japan.
Yoko
Y
Nakajima
Department of Pediatric, Fujita Health University, Aichi, Japan.
Hiroki
H
Miura
Department of Surgery, Fujita Health University, Aichi, Japan.
Atsushi
A
Sugioka
Department of Surgery, Fujita Health University, Aichi, Japan.
Yutaro
Y
Kato
Department of Surgery, Fujita Health University, Aichi, Japan.
Takamasa
T
Tokoro
Department of Surgery, Fujita Health University, Aichi, Japan.
Yoshinao
Y
Tanahashi
Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Mureo
M
Kasahara
Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Akinari
A
Fukuda
Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan.
Hiroki
H
Kurahashi
domino liver transplantation; heterozygous; living donor liver transplantation; maple syrup urine disease