Progress and challenges in development of new therapies for urea cycle disorders

Hum Mol Genet. 2019 Oct 1;28(R1):R42-R48. doi: 10.1093/hmg/ddz140.

Abstract

Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to transfer nitrogen from ammonia into urea. Current paradigms of treatment focus on dietary manipulations, ammonia scavenger drugs, and orthotopic liver transplantation. In the last years, there has been intense preclinical research aiming at developing more effective treatments for UCD, and as a result, several novel approaches based on new knowledge of the disease pathogenesis, cell and gene therapies are currently under clinical investigation. We provide an overview of the latest advances for the development of novel therapies for UCD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cell- and Tissue-Based Therapy
  • Combined Modality Therapy
  • Disease Management
  • Disease Susceptibility
  • Enzyme Replacement Therapy
  • Genetic Therapy
  • Humans
  • Liver Transplantation / methods
  • Metabolic Networks and Pathways
  • Treatment Outcome
  • Urea / metabolism
  • Urea Cycle Disorders, Inborn / diagnosis
  • Urea Cycle Disorders, Inborn / etiology
  • Urea Cycle Disorders, Inborn / metabolism
  • Urea Cycle Disorders, Inborn / therapy*

Substances

  • Urea