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

Pediatr Transplant. 2017 Aug;21(5). doi: 10.1111/petr.12948. Epub 2017 Jun 14.

Authors

Chika Takano¹, Mika Ishige¹, Erika Ogawa¹, Hiromi Usui¹, Reiko Kagawa², Go Tajima^{2

3}, Ryoji Fujiki⁴, Toshiyuki Fukao⁵, Koichi Mizuta⁶, Tatsuo Fuchigami¹, Shori Takahashi¹

Affiliations

¹ Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
² Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.
³ Division of Neonatal Screening, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
⁴ Department of Technology Development, Kazusa DNA Research Institute, Chiba, Japan.
⁵ Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
⁶ Transplant Surgery Division, Department of Surgery, Jichi Medical University, Tochigi, Japan.

PMID: 28612395
DOI: 10.1111/petr.12948

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.

Keywords: living donor liver transplantation; magnetic resonance imaging; maple syrup urine disease.

Publication types

Case Reports

MeSH terms

Child, Preschool
Female
Humans
Liver Transplantation / methods*
Living Donors*
Magnetic Resonance Imaging
Maple Syrup Urine Disease / diagnostic imaging*
Maple Syrup Urine Disease / surgery*