title: Living-donor liver transplantation for propionic acidemia.
abstract: Propionic acidemia is a rare autosomal recessive disorder affecting the catabolism of branched-chain amino acids because of a genetic defect in PCC. Despite the improvements in medical treatment with protein restriction, sufficient caloric intake, supplementation of l-carnitine, and metronidazole, patients with the severe form of propionic acidemia have life-threatening metabolic acidosis, hyperammonemia, and cardiomyopathy, which results in serious neurologic sequelae and sometimes death. This study retrospectively reviewed three children with neonatal-onset propionic acidemia who received LDLT. Between November 2005 and December 2010, 148 children underwent LDLT, with an overall patient survival of 90.5%, in our center. Three patients were indicated for transplantation because of propionic acidemia. All recipients achieved a resolution of metabolic derangement and better quality of life with protein restriction and medication, although urine methylcitrate and serum propionylcarnitine levels did not decrease markedly. LT can reduce the magnitude of progressive cardiac/neurologic disability as a result of poor metabolic control. Further evaluation is therefore required to determine the long-term suitability of this treatment modality.
authors.affiliation: Department of Transplantation, National Center for Child Health and Development, Tokyo, Japan. kasahara-m@ncchd.go.jp
authors.forename: Mureo
authors.initials: M
authors.lastname: Kasahara
authors.forename: Seisuke
authors.initials: S
authors.lastname: Sakamoto
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kanazawa
authors.forename: Chiaki
authors.initials: C
authors.lastname: Karaki
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Kakiuchi
authors.forename: Takanobu
authors.initials: T
authors.lastname: Shigeta
authors.forename: Akinari
authors.initials: A
authors.lastname: Fukuda
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Atsuko
authors.initials: A
authors.lastname: Nakazawa
authors.forename: Mika
authors.initials: M
authors.lastname: Ishige
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Nagao
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: Tohru
authors.initials: T
authors.lastname: Yorifuji
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Naiki
authors.forename: Reiko
authors.initials: R
authors.lastname: Horikawa
mesh_terms: D002331:Carnitine / Q000031:analogs & derivatives / Q000652:urine; D002675:Child, Preschool; D002951:Citrates / Q000652:urine; D005260:Female; D006801:Humans; D007223:Infant; D016031:Liver Transplantation / Q000379:methods*; D019520:Living Donors; D011183:Postoperative Complications / Q000628:therapy; D056693:Propionic Acidemia / Q000628:therapy*; D011788:Quality of Life; D012189:Retrospective Studies; D016896:Treatment Outcome
chemical_list: D002951:Citrates; C003223:propionylcarnitine; C031605:2-methylcitric acid; D002331:Carnitine