title: Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease.
abstract: 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 BCAAs 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 BCAAs levels have remained within normal range. It should be necessary to follow the physical growth and mental development of the recipient in the future.
authors.affiliation: Department of Transplantation and Pediatric Surgery, Kumamoto University, Kumamoto, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Kadohisa
authors.forename: Shirou
authors.initials: S
authors.lastname: Matsumoto
authors.forename: Hirotake
authors.initials: H
authors.lastname: Sawada
authors.forename: Masaki
authors.initials: M
authors.lastname: Honda
authors.forename: Takahiro
authors.initials: T
authors.lastname: Murokawa
authors.forename: Shintaro
authors.initials: S
authors.lastname: Hayashida
authors.forename: Yuki
authors.initials: Y
authors.lastname: Ohya
authors.forename: Kwang-Jong
authors.initials: KJ
authors.lastname: Lee
authors.forename: Hidekazu
authors.initials: H
authors.lastname: Yamamoto
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mitsubuchi
authors.forename: Fumio
authors.initials: F
authors.lastname: Endo
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Inomata
mesh_terms: D000597:Amino Acids, Branched-Chain / Q000378:metabolism; D005220:Fathers; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D016031:Liver Transplantation / Q000379:methods*; D019520:Living Donors; D008297:Male; D008375:Maple Syrup Urine Disease / Q000235:genetics* / Q000601:surgery*; D011184:Postoperative Period; D016896:Treatment Outcome
chemical_list: D000597:Amino Acids, Branched-Chain
keywords: autosomal recessive; branched-chain alpha-keto acid dehydrogenase complex; branched-chain amino acids; hereditary metabolic disorder; heterozygote