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Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease
Author(s) -
Kadohisa Masashi,
Matsumoto Shirou,
Sawada Hirotake,
Honda Masaki,
Murokawa Takahiro,
Hayashida Shintaro,
Ohya Yuki,
Lee KwangJong,
Yamamoto Hidekazu,
Mitsubuchi Hiroshi,
Endo Fumio,
Inomata Yukihiro
Publication year - 2015
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.12447
Subject(s) - maple syrup urine disease , medicine , liver transplantation , urine , transplantation , heterozygote advantage , gastroenterology , liver disease , pediatrics , disease , surgery , amino acid , leucine , biochemistry , chemistry , allele , gene
MSUD is a hereditary metabolic disorder that is characterized by impaired activity of the BCKADC . Liver transplantation has been approved as a treatment for some MSUD cases in which the control of BCAA s is insufficient. Although there have been several reports about DDLT for MSUD , few LDLT cases have been reported. Because either of parents who are heterozygote of this disease usually applies to be a candidate of donor in LDLT , the impairment of BCKADC activity of graft liver should be concerned. We performed LDLT for 10 month‐old girl with a left lateral segment graft from her father. BCKADC activities of the patient and her parents were measured using lysates of lymphocytes isolated from peripheral blood specimen before the transplant. As a consequence, the activity of BCKADC of father was not inferior to a normal range. The patient tolerated the operation well. Postoperative course was uneventful and mixed milk was started at 8th POD. The serum BCAA s levels have remained within normal range. It should be necessary to follow the physical growth and mental development of the recipient in the future.

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