Can I read Dialysis for Inborn Errors of Metabolism on EtoBox?

Dialysis for Inborn Errors of Metabolism by Euan Soo; Franz Schaefer is a book available to read on EtoBox.

What is Dialysis for Inborn Errors of Metabolism about?

Inherited metabolic disorders may lead to acute accumulation of toxic metabolites that may cause irreversible neurological damage. In particular, hyperammonemic crises in urea cycle disorders and intoxication with branched-chain amino acid metabolites in maple syrup urine disease (MSUD) typically occur at neonatal age. Emergency therapeutic interventions include high caloric supply to induce anabolism and reduce proteolysis, medications inducing alternative pathways in urea cycle disorders, diet low in branched-chain amino acids in MSUD, and, most importantly, efficient removal of neurotoxic metabolites by extracorporeal dialysis. Intermittent or continuous venovenous hemodialysis is considered the treatment of choice, whereas the clearance provided by peritoneal dialysis is insufficient to accomplish the treatment target of reducing ammonia or leucine levels to the noncritical range within a few hours. The technical equipment and procedural protocols available for neonatal metabolic dialysis are reviewed in this chapter.

Author

Euan Soo; Franz Schaefer

Publisher

Elsevier

Published

2023

Language

EN