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. © 2010 John Wiley & Sons A/S.

Citation

Mureo Kasahara, Seisuke Sakamoto, Takanobu Shigeta, Akinari Fukuda, Rika Kosaki, Atsuko Nakazawa, Shinji Uemoto, Masahiro Noda, Yasuhiro Naiki, Reiko Horikawa. Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency. Pediatric transplantation. 2010 Dec;14(8):1036-40

Mesh Tags

PMID: 21108709

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