TY - JOUR
T1 - Successful living donor liver transplantation for classical maple syrup urine disease
AU - Yasui, Toshihiro
AU - Suzuki, Tatsuya
AU - Hara, Fujio
AU - Watanabe, Shunsuke
AU - Uga, Naoko
AU - Naoe, Atsuki
AU - Yoshikawa, Tetsushi
AU - Ito, Tetsuya
AU - Nakajima, Yoko
AU - Miura, Hiroki
AU - Sugioka, Atsushi
AU - Kato, Yutaro
AU - Tokoro, Takamasa
AU - Tanahashi, Yoshinao
AU - Kasahara, Mureo
AU - Fukuda, Akinari
AU - Kurahashi, Hiroki
N1 - Publisher Copyright:
© 2016 The Authors. Pediatric Transplantation Published by Wiley Periodicals, Inc.
PY - 2016/8/1
Y1 - 2016/8/1
N2 - 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.
AB - 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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U2 - 10.1111/petr.12738
DO - 10.1111/petr.12738
M3 - Article
C2 - 27319399
AN - SCOPUS:84978734188
SN - 1397-3142
VL - 20
SP - 707
EP - 710
JO - Pediatric Transplantation
JF - Pediatric Transplantation
IS - 5
ER -