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Article
Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism
Trends in Molecular Medicine
  • Asad Mian, Baylor College of Medicine, United States
  • Brendan Lee, Baylor College of Medicine, United States
Publication Date
12-1-2002
Document Type
Review Article
Disciplines
Abstract

Urea-cycle disorders (UCDs) are a group of inborn errors of hepatocyte metabolism that are caused by the loss of enzymes involved in the process of transferring nitrogen from ammonia to urea, via the urea cycle (UC). Recent genetic analyses of inherited disorders that present with hyperammonemia demonstrate the function of cellular transporters that regulate the availability of UC intermediates. The regulation of UC intermediates, such as arginine, could have far reaching implications on nitric-oxide synthesis and vascular tone. Hence, each UCD and UC-related disorder constitutes a unique gene-nutrient interaction that is crucial for postnatal homeostasis. Recent advances in the diagnosis and management of UCDs include the application of in vivo metabolic-flux measurements. Cumulative morbidity is still high despite dietary and pharmacological therapies and, hence, both cell and gene therapies are being pursued as possible long-term corrective treatments. Although gene-replacement therapy has suffered recent clinical setbacks, new vector developments offer hope for the treatment of cell-autonomous defects of hepatocyte metabolism.

Comments

This work was published before the author joined Aga Khan University

Citation Information
Asad Mian and Brendan Lee. "Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism" Trends in Molecular Medicine Vol. 8 Iss. 12 (2002) p. 583 - 589
Available at: http://works.bepress.com/asad_mian/35/