Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life

Molecular Genetics and Metabolism

Volumn 84, Issue 4, 2005, Pages 363-366

  Ensenauer, Regina ^a   Tuchman, Mendel ^b   El Youssef, Mounif ^a   Kotagal, Suresh ^a   Ishitani, Michael B ^a   Matern, Dietrich ^a   Babovic Vuksanovic, Dusica ^a  

^a MAYO CLINIC   (United States)

^b GEORGE WASHINGTON UNIVERSITY   (United States)

Author keywords

Citrulline supplementation; Hyperammonemia; Infantile liver transplantation; Ornithine carbamoyltransferase deficiency; Ornithine transcarbamylase deficiency

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CADAVER DONOR; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; HUMAN; LIVER TRANSPLANTATION; MALE; NEWBORN; NEWBORN PERIOD; PRIORITY JOURNAL;

EID: 15244339544     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.12.011     Document Type: Article

References (26)

1. S.W. Brusilow, A.L. Horwich, Urea cycle enzymes, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic & Molecular Bases of Inherited Disease, McGraw-Hill, New York, pp. 1909-1963
2. M. Msall, M.L. Batshaw, R. Suss, S.W. Brusilow, and E.D. Mellits Neurologic outcome in children with inborn errors of urea synthesis: outcome of urea-cycle enzymopathies N. Engl. J. Med. 310 1984 1500 1505
3. N.E. Maestri, D. Clissold, and S.W. Brusilow Neonatal onset ornithine transcarbamylase deficiency: a retrospective analysis J. Pediatr. 134 1999 268 272
4. S. Picca, C. Dionisi-Vici, D. Abeni, A. Pastore, C. Rizzo, M. Orzalesi, G. Sabetta, G. Rizzoni, and A. Bartulli Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators Pediatr. Nephrol. 16 2001 862 867
5. P. Nicolaides, D. Liebsch, N. Dale, J. Leonard, and R. Surtees Neurological outcome of patients with ornithine carbamoyltransferase deficiency Arch. Dis. Child. 86 2002 54 56
6. C. Bachmann Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation Eur. J. Pediatr. 162 2003 410 416
7. C. Bachmann Long-term outcome of patients with urea cycle disorders and the question of neonatal screening Eur. J. Pediatr. 162 2003 S29 S33
8. S.E. Raper, M. Yudkoff, N. Chirmule, G.P. Gao, F. Nunes, Z.J. Haskal, E.E. Furth, K.J. Propert, M.B. Robinson, S. Magosin, H. Simoes, L. Speicher, J. Hughes, J. Tazelaar, N.A. Wivel, J.M. Wilson, and M.L. Batshaw A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiency Hum. Gene Ther. 13 2002 163 175
9. S.P. Horslen, T.C. McCowan, T.C. Goertzen, P.I. Warkentin, H.B. Cai, S.C. Strom, and I.J. Fox Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder Pediatrics 111 2003 1262 1267
10. R.R. Mitry, A. Dhawan, R.D. Hughes, S. Bansal, S. Lehec, C. Terry, N.D. Heaton, J.B. Karani, G. Mieli-Vergani, and M. Rela One liver, three recipients: segment IV from split-liver procedures as a source of hepatocytes for cell transplantation Transplantation 77 2004 1614 1616
11. A.A. Busuttil, J.A. Goss, P. Seu, T.S. Dulkanchainun, G.S. Yanni, S.V. McDiarmid, and R.W. Busuttil The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency Liver Transpl. Surg. 4 1998 350 354
12. T. Hasegawa, A.G. Tzakis, S. Todo, J. Reyes, B. Nour, D.N. Finegold, and T.E. Starzl Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy J. Pediatr. Surg. 30 1995 863 865
13. M. Tuchman, M.Y. Tsai, R.A. Holzknecht, and S.W. Brusilow Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome Pediatr. Res. 26 1989 77 82
14. J.V. Leonard, and P.J. McKiernan The role of liver transplantation in urea cycle disorders Mol. Genet. Metab. 81 2004 S74 S78
15. A.L. Gropman, and M.L. Batshaw Cognitive outcome in urea cycle disorders Mol. Genet. Metab. 81 2004 S58 S62
16. K.V. Rama Rao, A.R. Jayakumar, and D.M. Norenberg Ammonia neurotoxicity: role of the mitochondrial permeability transition Metab. Brain Dis. 18 2003 113 127
17. N.E. Maestri, E.R. Hauser, D. Bartholomew, and S.W. Brusilow Prospective treatment of urea cycle disorders J. Pediatr. 119 1991 923 928
18. L.K. Kayler, C.S. Rasmussen, D.M. Dykstra, J.D. Punch, S.M. Rudich, J.C. Magee, M.A. Maraschio, J.D. Arenas, D.A. Campbell Jr., and R.M. Merion Liver transplantation in children with metabolic disorders in the United States Am. J. Transplant. 3 2003 334 339
19. S. Todo, T.E. Starzl, A.G. Tzakis, K.J. Benkov, F. Kalousek, T. Saheki, K. Tanikawa, and W.A. Fenton Orthotopic liver transplantation for urea cycle enzyme deficiency Hepatology 15 1992 419 422
20. M. Tuchman Persistent acitrullinemia after liver transplantation for carbamylphosphate synthetase deficiency N. Engl. J. Med. 320 1989 1498 1499
21. I.D. van Mourik, S.V. Beath, G.A. Brook, A.J. Cash, A.D. Mayer, J.A. Buckels, and D.A. Kelly Long-term nutritional and neurodevelopmental outcome of liver transplantation in infants aged less than 12 months J. Pediatr. Gastroenterol. Nutr. 30 2000 269 275
22. E. Grabhorn, A. Schulz, K. Helmke, B. Hinrichs, X. Rogiers, D.C. Broering, M. Burdelski, and R. Ganschow Short- and long-term results of liver transplantation in infants aged less than 6 months Transplantation 78 2004 235 241
23. S.W. Brusilow, and N.E. Maestri Urea cycle disorders: diagnosis, pathophysiology, and therapy Adv. Pediatr. 43 1996 127 170
24. N.E. Maestri, K.D. McGowan, and S.W. Brusilow Plasma glutamine concentration: a guide in the management of urea cycle disorders J. Pediatr. 121 1992 259 261
25. H.M. Noujaim, D.A. Mayer, J.A. Buckles, S.V. Beath, D.A. Kelly, P.J. McKiernan, D.F. Mirza, and J. de Ville De Goyet Techniques for and outcome of liver transplantation in neonates and infants weighing up to 5 kilograms J. Pediatr. Surg. 37 2002 159 164
26. M. Tuchman The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency J. Lab. Clin. Med. 120 1992 836 850