Extracorporeal Methods in Treatment of Inborn Errors of Metabolism

Volume: 24 Number: 4 September 15, 2015
İlknur Tolunay , Rıza Yıldızdaş , Özden Horoz , Ercüment Petmezci , Faruk Ekinci , Neslihan Mungan
TR EN

Extracorporeal Methods in Treatment of Inborn Errors of Metabolism

Abstract

Inborn errors of metabolism are hereditary disorders that are related to the accumulation of toxic substances or deficiency of proteins because of enzymatic blokage in the metabolic pathways. Treatment should be quick and aggressive as inborn errors of metabolism might lead toorgan damage and even death. This article discusses extracorporeal methods like exchange transfusion, peritoneal dialysis, hemodialysis, plasmapheresis and extracorporeal membran oxygenation for acute management of inborn errors of metabolism apart from medical therapies.

Keywords

Extracorporeal treatments, inborn errors of metabolism, pediatric intensive care unit

References

  1. Kara A. Çukurova Üniversitesi Tıp Fakültesi pediatrik metabolizma hastalıkları ve beslenme polikliniğinde tanı alan veya takibe giren kalıtsal metabolik hastalığı olan hastaların tanılarının, klinik ve laboratuvar bulgularının analizi ile takip sonuçlarının değerlendirilmesi (Uzmanlık tezi). Adana, Çukurova Üniversitesi, 2012.
  2. Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998;102:1-9.
  3. Ogier H. Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism. Semin Neonatol. 2002;7:17–26.
  4. Wendel U, Langenbeck U, Lombeck I, Bremer HJ. Exchange transfusion in acute episodes of maple syrup urine disease. Eur J Pediatr. 1982;138:293-96.
  5. Batshaw ML, Brusilov SW. Treatment of hyperammonemic coma caused by inborn errors of ureasyntesis. J Pediatr. 1980;97:893-900.
  6. 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;78:706-11.
  7. Kasapkara ÇS, Akar M, Yıldırım ZN, Tüzün H, Kanar B, Özbek MN. Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course. Ren Fail. 2014;36:451-2.
  8. Pela I, Seracini D,Donatti MA, Lavoratti G, Pasquini E, Materassi M. Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date? Pediatr Nephrol. 2008;23:163-8.
  9. Ünal S, Bilgin L, Gündüz M, Uncu N, Azili MN, Tiryaki T. The implementation of neonatal peritoneal dialysis in a clinical setting. J Maternal Fetal Neonatal Med. 2012;25:2111-4.
  10. Bilgin L, Ünal S, Gündüz M, Uncu N, Tiryaki T. Utility of peritoneal dialysis in neonates affected by inborn errors of metabolism. J Paediatr Child Health. 2014;50:531–5.
AMA
1.Tolunay İ, Yıldızdaş R, Horoz Ö, Petmezci E, Ekinci F, Mungan N. Extracorporeal Methods in Treatment of Inborn Errors of Metabolism. Arşiv Kaynak Tarama Dergisi. 2015;24(4):509-519. doi:10.17827/aktd.48450