A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation

Chika Takano; Mika Ishige; Erika Ogawa; Hiromi Usui; Reiko Kagawa; Go Tajima; Ryoji Fujiki; Toshiyuki Fukao; Koichi Mizuta; Tatsuo Fuchigami; Shori Takahashi

doi:10.1111/petr.12948

A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation

Chika Takano, Mika Ishige, Erika Ogawa, Hiromi Usui, Reiko Kagawa, Go Tajima, Ryoji Fujiki, Toshiyuki Fukao, Koichi Mizuta, Tatsuo Fuchigami, Shori Takahashi

School of Medicine

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

Abstract

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.

Original language	English
Article number	e12948
Journal	Pediatric Transplantation
Volume	21
Issue number	5
DOIs	https://doi.org/10.1111/petr.12948
Publication status	Published - Aug 2017

Keywords

living donor liver transplantation
magnetic resonance imaging
maple syrup urine disease

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10.1111/petr.12948

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title = "A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation",

abstract = "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.",

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AU - Takano, Chika

AU - Ishige, Mika

AU - Ogawa, Erika

AU - Usui, Hiromi

AU - Kagawa, Reiko

AU - Tajima, Go

AU - Fujiki, Ryoji

AU - Fukao, Toshiyuki

AU - Mizuta, Koichi

AU - Fuchigami, Tatsuo

AU - Takahashi, Shori

PY - 2017/8

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N2 - 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.

AB - 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.

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KW - magnetic resonance imaging

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A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation

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Keywords

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