Skip to main content
SpringerLink
Log in

Dialytic Therapy of Inborn Errors of Metabolism in Case of Acute Decompensation

  • Chapter
  • First Online:
Pediatric Dialysis

  • 779 Accesses

Abstract

Some inborn errors of metabolism involve enzyme defects in the catabolic pathway of amino acids that induce a metabolic encephalopathy by accumulation of neurotoxic metabolites (endogenous intoxication). In these diseases, detailed in this chapter, intermediate products of amino acid catabolism are not detoxified by the liver, accumulate, and contribute to neurologic symptoms. To restaure neurological function, the intermediate products accumulated are removed through a combination of nutritional, pharmacological and dialysis treatments.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 149.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 199.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 279.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Jouvet P, Rustin P, Taylor DL, Pocock JM, Felderhoff-Mueser U, Mazarakis ND, et al. Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release: implications for neurological impairment associated with maple syrup urine disease. Mol Biol Cell. 2000;11(5):1919–32.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Ratnakumari L, Qureshi IA, Butterworth RF. Effects of congenital hyperammonemia on the cerebral and hepatic levels of the intermediates of energy metabolism in spf mice. Biochem Biophys Res Commun. 1992;184(2):746–51.

    Article  CAS  PubMed  Google Scholar 

  3. Jouvet P, Touati G, Lesage F, Dupic L, Tucci M, Saudubray JM, et al. Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit. Eur J Pediatr. 2007;166(5):461–5.

    Article  PubMed  Google Scholar 

  4. Meng M, Zhang Y-P. Impact of inborn errors of metabolism on admission in a neonatal intensive care unit: a 4-year report. J Pediatr Endocrinol Metab. 2013;26(7–8):689–93.

    PubMed  Google Scholar 

  5. Triplett KE, Murray R, Anstey M. Multifactorial non-cirrhotic hyperammonaemic encephalopathy. BMJ Case Rep. 2018;2018:bcr-2017-223245.

    Article  PubMed  Google Scholar 

  6. Tarasenko TN, McGuire PJ. The liver is a metabolic and immunologic organ: a reconsideration of metabolic decompensation due to infection in inborn errors of metabolism (IEM). Mol Genet Metab. 2017;121(4):283–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Jouvet P, Lortie A, Maranda B, Tasker R. Metabolic encephalopathies in children. In: Nichols D, editor. Rogers textbook of pediatric intensive care. 4th ed. Philadelphia: Lippincott, Williams & Wilkins; 2008. p. 973–83.

    Google Scholar 

  8. Fernandes J, Saudubray J-M, van den Berghe G, Walter JH, editors. Inborn metabolic diseases: diagnosis and treatment [Internet]. 4th ed. Berlin/Heidelberg: Springer-Verlag; 2006. [Cited 18 Feb 2019]. Available from: https://www.springer.com/la/book/9783540287858.

    Google Scholar 

  9. Summar M. Current strategies for the management of neonatal urea cycle disorders. J Pediatr. 2001;138(1):S30–9.

    Article  CAS  PubMed  Google Scholar 

  10. 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(22):2282–92.

    Article  CAS  PubMed  Google Scholar 

  11. Gebhardt B, Dittrich S, Parbel S, Vlaho S, Matsika O, Bohles H. N-Carbamylglutamate protects patients with decompensated propionicaciduria from hyperammonaemia. J Inherit Metab Dis. 2005;28(2):241–4.

    Article  CAS  PubMed  Google Scholar 

  12. Picca S, Bartuli A, Dionisi-Vici C. Medical management and dialysis therapy for the infant with an inborn error of metabolism. Semin Nephrol. 2008;28(5):477–80.

    Article  CAS  PubMed  Google Scholar 

  13. Diane Mok TY, Tseng M-H, Chiang M-C, Lin J-L, Chu SM, Hsu J-F, et al. Renal replacement therapy in the neonatal intensive care unit. Pediatr Neonatol. 2018;59(5):474–80.

    Article  PubMed  Google Scholar 

  14. Gupta S, Fenves AZ, Hootkins R. The role of RRT in hyperammonemic patients. Clin J Am Soc Nephrol. 2016;11(10):1872–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Cho H. Renal replacement therapy in neonates with an inborn error of metabolism. Korean J Pediatr. 2019;62(2):43–7.

    Article  CAS  PubMed  Google Scholar 

  16. Semama DS, Huet F, Gouyon JB, Lallemant C, Desgres J. Use of peritoneal dialysis, continuous arteriovenous hemofiltration, and continuous arteriovenous hemodiafiltration for removal of ammonium chloride and glutamine in rabbits. J Pediatr. 1995;126(5 Pt 1):742–6.

    Article  CAS  PubMed  Google Scholar 

  17. Schaefer F, Straube E, Oh J, Mehls O, Mayatepek E. Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant. 1999;14(4):910–8.

    Article  CAS  PubMed  Google Scholar 

  18. Batshaw ML, Brusilow SW. Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. J Pediatr. 1980;97(6):893–900.

    Article  CAS  PubMed  Google Scholar 

  19. Saudubray JM, Ogier H, Charpentier C, Depondt E, Coudé FX, Munnich A, et al. Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. J Inherit Metab Dis. 1984;7(Suppl 1):2–9.

    Article  PubMed  Google Scholar 

  20. Donn SM, Swartz RD, Thoene JG. Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant. J Pediatr. 1979;95(1):67–70.

    Article  CAS  PubMed  Google Scholar 

  21. Wiegand C, Thompson T, Bock GH, Mathis RK, Kjellstrand CM, Mauer SM. The management of life-threatening hyperammonemia: a comparison of several therapeutic modalities. J Pediatr. 1980;96(1):142–4.

    Article  CAS  PubMed  Google Scholar 

  22. Lettgen B, Bonzel KE, Colombo JP, Fuchs B, Kordass U, Wendel K, et al. Therapy of hyperammonemia in carbamyl phosphate synthase deficiency with peritoneal dialysis and venovenous hemofiltration. Monatsschr Kinderheilkd. 1991;139(9):612–7.

    CAS  PubMed  Google Scholar 

  23. Gortner L, Leupold D, Pohlandt F, Bartmann P. Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism. Acta Paediatr Scand. 1989;78(5):706–11.

    Article  CAS  PubMed  Google Scholar 

  24. Siegel NJ, Brown RS. Peritoneal clearance of ammonia and creatinine in a neonate. J Pediatr. 1973;82(6):1044–6.

    Article  CAS  PubMed  Google Scholar 

  25. Snyderman SE, Sansaricq C, Phansalkar SV, Schacht RC, Norton PM. The therapy of hyperammonemia due to ornithine transcarbamylase deficiency in a male neonate. Pediatrics. 1975;56(1):65–73.

    CAS  PubMed  Google Scholar 

  26. Ring E, Zobel G, Stöckler S. Clearance of toxic metabolites during therapy for inborn errors of metabolism. J Pediatr. 1990;117(2 Pt 1):349–50.

    Article  CAS  PubMed  Google Scholar 

  27. Thompson GN, Butt WW, Shann FA, Kirby DM, Henning RD, Howells DW, et al. Continuous venovenous hemofiltration in the management of acute decompensation in inborn errors of metabolism. J Pediatr. 1991;118(6):879–84.

    Article  CAS  PubMed  Google Scholar 

  28. Falk MC, Knight JF, Roy LP, Wilcken B, Schell DN, O’Connell AJ, et al. Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism. Pediatr Nephrol 1994;8(3):330–3.

    Google Scholar 

  29. Arbeiter AK, Kranz B, Wingen A-M, Bonzel K-E, Dohna-Schwake C, Hanssler L, et al. Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism. Nephrol Dial Transplant. 2010;25(4):1257–65.

    Article  PubMed  Google Scholar 

  30. Rajpoot DK, Gargus JJ. Acute hemodialysis for hyperammonemia in small neonates. Pediatr Nephrol. 2004;19(4):390–5.

    Article  PubMed  Google Scholar 

  31. Sadowski RH, Harmon WE, Jabs K. Acute hemodialysis of infants weighing less than five kilograms. Kidney Int. 1994;45(3):903–6.

    Article  CAS  PubMed  Google Scholar 

  32. Rutledge SL, Havens PL, Haymond MW, McLean RH, Kan JS, Brusilow SW. Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism. J Pediatr. 1990;116(1):125–8.

    Article  CAS  PubMed  Google Scholar 

  33. Levy HL. Genetic screening. Adv Hum Genet. 1973;4:1–104.

    CAS  PubMed  Google Scholar 

  34. Phan V, Clermont M-J, Merouani A, Litalien C, Tucci M, Lambert M, et al. Duration of extracorporeal therapy in acute maple syrup urine disease: a kinetic model. Pediatr Nephrol. 2006;21(5):698–704.

    Article  PubMed  Google Scholar 

  35. Wendel U, Becker K, Przyrembel H, Bulla M, Manegold C, Mench-Hoinowski A, et al. Peritoneal dialysis in maple-syrup-urine disease: studies on branched-chain amino and keto acids. Eur J Pediatr. 1980;134(1):57–63.

    Article  CAS  PubMed  Google Scholar 

  36. Lim VS, Bier DM, Flanigan MJ, Sum-Ping ST. The effect of hemodialysis on protein metabolism. A leucine kinetic study. J Clin Invest. 1993;91(6):2429–36.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  37. Jouvet P, Jugie M, Rabier D, Desgrès J, Hubert P, Marie Saudubray J, et al. Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease. Intensive Care Med. 2001;27(11):1798–806.

    Article  CAS  PubMed  Google Scholar 

  38. Jouvet P, Hubert P, Saudubray JM, Rabier D, Man NK. Kinetic modeling of plasma leucine levels during continuous venovenous extracorporeal removal therapy in neonates with maple syrup urine disease. Pediatr Res. 2005;58(2):278–82.

    Article  CAS  PubMed  Google Scholar 

  39. Köse M, Canda E, Kagnici M, Uçar SK, Çoker M. A patient with MSUD: acute management with sodium phenylacetate/sodium benzoate and sodium phenylbutyrate [Internet]. Case Rep Pediatr. 2017 [Cited 13 Feb 2019]. Available from: https://www.hindawi.com/journals/cripe/2017/1045031/.

  40. Mak CM, Lam C, Siu W, Law C, Chan W, Lee HC, et al. OPathPaed service model for expanded newborn screening in Hong Kong SAR, China. Br J Biomed Sci. 2013;70(2):84–8.

    Article  CAS  PubMed  Google Scholar 

  41. Filippi L, Gozzini E, Fiorini P, Malvagia S, la Marca G, Donati MA. N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology. 2010;97(3):286–90.

    Article  CAS  PubMed  Google Scholar 

  42. Fajardo C, Sanchez CP, Cutler D, Sahney S, Sheth R. Inpatient citrate-based hemodialysis in pediatric patients. Pediatr Nephrol. 2016;31(10):1667–72.

    Article  PubMed  Google Scholar 

  43. Ağbaş A, Canpolat N, Çalışkan S, Yılmaz A, Ekmekçi H, Mayes M, et al. Hemodiafiltration is associated with reduced inflammation, oxidative stress and improved endothelial risk profile compared to high-flux hemodialysis in children. PLoS One. 2018;13(6):e0198320.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  44. Whitelaw A, Bridges S, Leaf A, Evans D. Emergency treatment of neonatal hyperammonaemic coma with mild systemic hypothermia. Lancet. 2001;358(9275):36–8.

    Article  CAS  PubMed  Google Scholar 

  45. Lichter-Konecki U, Nadkarni V, Moudgil A, Cook N, Poeschl J, Meyer MT, et al. Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias. Mol Genet Metab. 2013;109(4):354–9.

    Article  CAS  PubMed  Google Scholar 

  46. 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(445):18–21.

    CAS  PubMed  Google Scholar 

  47. Puppi J, Tan N, Mitry RR, Hughes RD, Lehec S, Mieli-Vergani G, et al. Hepatocyte transplantation followed by auxiliary liver transplantation--a novel treatment for ornithine transcarbamylase deficiency. Am J Transplant. 2008;8(2):452–7.

    Article  CAS  PubMed  Google Scholar 

  48. Brunetti-Pierri N, Clarke C, Mane V, Palmer DJ, Lanpher B, Sun Q, et al. Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper dependent adenoviral vectors. J Gene Med. 2008;10(8):890–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  49. Wilhelm M, Chung W. Inborn errors of metabolism. In: Nichols D, editor. Rogers textbook of pediatric intensive care. 4th ed. Philadelphia: Lippincott, Williams & Wilkins; 2008. p. 1685–97.

    Google Scholar 

  50. Talele SS, Xu K, Pariser AR, Braun MM, Farag-El-Massah S, Phillips MI, et al. Therapies for inborn errors of metabolism: what has the orphan drug act delivered? Pediatrics. 2010;126(1):101–6.

    Article  PubMed  Google Scholar 

  51. Echeverri OY, Guevara JM, Espejo-Mojica ÁJ, Ardila A, Pulido N, Reyes M, et al. Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center. Orphanet J Rare Dis [Internet]. 2018 [Cited 13 Feb 2019];13. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097205/.

Download references

Author information

Authors and Affiliations

  1. Sainte-Justine Hospital, Department of Pediatrics, Montreal, QC, Canada

    Lucile Barcat & Philippe Jouvet

  2. Department of Obstetrics Gynecology, Royal Victoria Hospital, Montreal, QC, Canada

    Patricia Monnier

  3. Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany

    Franz Schaefer

Authors
  1. Lucile Barcat
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Patricia Monnier
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Franz Schaefer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Philippe Jouvet
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Philippe Jouvet .

Editor information

Editors and Affiliations

  1. Department of Pediatrics, University of Missouri-Kansas City, School of Medicine, Division of Pediatric Nephrology, Children’s Mercy Kansas City, Kansas City, MO, USA

    Bradley A. Warady

  2. Stanford University School of Medicine, Division of Pediatric Nephrology, Department of Pediatrics, Palo Alto, CA, USA

    Steven R. Alexander

  3. Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany

    Franz Schaefer

Rights and permissions

Reprints and permissions

Copyright information

© 2021 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Barcat, L., Monnier, P., Schaefer, F., Jouvet, P. (2021). Dialytic Therapy of Inborn Errors of Metabolism in Case of Acute Decompensation. In: Warady, B.A., Alexander, S.R., Schaefer, F. (eds) Pediatric Dialysis. Springer, Cham. https://doi.org/10.1007/978-3-030-66861-7_47

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-66861-7_47

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-66860-0

  • Online ISBN: 978-3-030-66861-7

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation