Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency.
CPS1 is a mitochondrial matrix enzyme that catalyzes the first committed step of the urea cycle, the primary system for removing nitrogen produced by protein metabolism using N-acetylglutamate. Patients with CPS1 deficiency have severe hyperammonemia that results in serious neurologic sequelae and sometimes death. LT has been indicated for neonatal-onset CPS1 deficiency. This study retrospectively reviewed five children with a diagnosis of CPS1 deficiency who underwent LDLT from heterozygous donors. Between November 2005 and May 2010, 124 children underwent LDLT with an overall patient and graft survival of 91.0%. Five patients were indicated for LDLT because of CPS1 deficiency. All recipients achieved resolution of their metabolic derangement, without donor complication, with a normal feeding regimen without medication for their original metabolic liver disease. LDLT, even from heterozygous donors, appears to be a feasible option, associated with a better quality of life for treating patients with CPS1 deficiency. Long-term observation may therefore be necessary to collect sufficient data to confirm the efficacy of this treatment modality.
Department of Transplant Surgery, National Center for Child Health and Development, Tokyo, Japan. kasahara-m@ncchd.go.jp
Mureo
M
Kasahara
Seisuke
S
Sakamoto
Takanobu
T
Shigeta
Akinari
A
Fukuda
Rika
R
Kosaki
Atsuko
A
Nakazawa
Shinji
S
Uemoto
Masahiro
M
Noda
Yasuhiro
Y
Naiki
Reiko
R
Horikawa
D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000601:surgery*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008111:Liver Function Tests; D016031:Liver Transplantation; D019520:Living Donors; D008297:Male; D016896:Treatment Outcome