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Successful living donor liver transplantation for classical maple syrup urine disease
Author(s) -
Yasui Toshihiro,
Suzuki Tatsuya,
Hara Fujio,
Watanabe Shunsuke,
Uga Naoko,
Naoe Atsuki,
Yoshikawa Tetsushi,
Ito Tetsuya,
Nakajima Yoko,
Miura Hiroki,
Sugioka Atsushi,
Kato Yutaro,
Tokoro Takamasa,
Tanahashi Yoshinao,
Kasahara Mureo,
Fukuda Akinari,
Kurahashi Hiroki
Publication year - 2016
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/petr.12738
Subject(s) - maple syrup urine disease , medicine , chylous ascites , liver transplantation , transplantation , ascites , urine , gastroenterology , urinary system , endocrinology , pediatrics , amino acid , leucine , biochemistry , chemistry
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.