Seminars in Nephrology
Volume 28, Issue 5 , Pages 477-480 , September 2008

Medical Management and Dialysis Therapy for the Infant With an Inborn Error of Metabolism

  • Stefano Picca, MD

      Affiliations

    • Department of Nephrology and Urology, Dialysis Unit, “Bambino Gesù” Children's Research Hospital, Rome, Italy
    • Corresponding Author InformationAddress reprint requests to Stefano Picca, MD, Department of Nephrology and Urology, Dialysis Unit, “Bambino Gesù” Children's Research Hospital, Piazza S. Onofrio, 4, 00165 Rome, Italy
    • ,
  • Andrea Bartuli, MD

      Affiliations

    • Metabolic Unit, “Bambino Gesù” Children's Research Hospital, Rome, Italy
    • ,
  • Carlo Dionisi-Vici, MD

      Affiliations

    • Metabolic Unit, “Bambino Gesù” Children's Research Hospital, Rome, Italy

References 

  1. Summar M. Current strategies for the management of neonatal urea cycle disorders. J Pediatr. 2001;138:S30–S39
  2. Leonard JV, Morris AA. Inborn errors of metabolism around time of birth. Lancet. 2000;356:583–587
  3. Ogier de Baulny H, Saudubray JM. Branched-chain organic acidurias. Semin Neonatol. 2002;7:65–74
  4. Picca S, Dionisi-Vici C, Abeni D, Pastore A, Rizzo C, Orzalesi M, et al. Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol. 2001;16:862–867
  5. Deodato F, Boenzi S, Rizzo C, Abeni D, Caviglia S, Picca S, et al. Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia. Acta Paediatr Suppl. 2004;93:18–21
  6. Gebhardt B, Dittrich S, Parbel S, Vlaho S, Matsika O, Bohles H. N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis. 2005;28:241–244
  7. Gebhardt B, Vlaho S, Fischer D, Sewell A, Bohles H. N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria. Mol Genet Metab. 2003;79:303–304
  8. Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet. 2006;142:104–112
  9. Walter JH, Wraith JE, Cleary MA. Absence of acidosis in the initial presentation of propionic acidaemia. Arch Dis Child Fetal Neonatal Ed. 1995;72:F197–F199
  10. Bunchman TE, Barletta GM, Winters JW, Gardner JJ, Crumb TL, McBryde KD. Phenylacetate and benzoate clearance in a hyperammonemic infant on sequential hemodialysis and hemofiltration. Pediatr Nephrol. 2007;22:1062–1065
  11. McBryde KD, Kudelka TL, Kershaw DB, Brophy PD, Gardner JJ, Smoyer WE. Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency. J Pediatr. 2004;144:536–540
  12. Colombo JP. Congenital disorders of the urea cycle and ammonia detoxication. Monogr Paediatr. 1971;1:1–150
  13. Batshaw ML. Inborn errors of urea synthesis. Ann Neurol. 1994;35:133–141
  14. Batshaw ML, Brusilow SW. Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. J Pediatr. 1980;97:893–900
  15. Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med. 2007;356:2282–2292
  16. Schaefer F, Straube E, Oh J, Mehls O, Mayatepek E. Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant. 1999;14:910–918
  17. Msall M, Batshaw ML, Suss R, Brusilow SW, Mellits ED. Neurologic outcome in children with inborn errors of urea synthesis (Outcome of urea-cycle enzymopathies). N Engl J Med. 1984;310:1500–1505

PII: S0270-9295(08)00115-0

doi: 10.1016/j.semnephrol.2008.05.007

Seminars in Nephrology
Volume 28, Issue 5 , Pages 477-480 , September 2008

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