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A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation
Author(s) -
Takano Chika,
Ishige Mika,
Ogawa Erika,
Usui Hiromi,
Kagawa Reiko,
Tajima Go,
Fujiki Ryoji,
Fukao Toshiyuki,
Mizuta Koichi,
Fuchigami Tatsuo,
Takahashi Shori
Publication year - 2017
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.12948
Subject(s) - maple syrup urine disease , medicine , liver transplantation , transplantation , living donor liver transplantation , surgery , leucine , intensive care medicine , pediatrics , amino acid , biochemistry , chemistry
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.