Living-donor liver transplantation for propionic acidemia

作者：Kasahara Mureo^*; Sakamoto Seisuke; Kanazawa Hiroyuki; Karaki Chiaki; Kakiuchi Toshihiko; Shigeta Takanobu; Fukuda Akinari; Kosaki Rika; Nakazawa Atsuko; Ishige Mika; Nagao Masayoshi; Shigematsu Yosuke; Yorifuji Tohru; Naiki Yasuhiro; Horikawa Reiko

来源：Pediatric Transplantation, 2012, 16(3): 230-234.

DOI：10.1111/j.1399-3046.2011.01607.x

• living donor liver transplantation
• liver transplantation
• pediatric transplantation

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.

• 出版日期2012-5