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  • Title: Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency.
    Author: Kasahara M, Sakamoto S, Shigeta T, Fukuda A, Kosaki R, Nakazawa A, Uemoto S, Noda M, Naiki Y, Horikawa R.
    Journal: Pediatr Transplant; 2010 Dec; 14(8):1036-40. PubMed ID: 21108709.
    Abstract:
    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.
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