Gregory Enns

Publication Details

  • Nitrogen sparing therapy revisited 2009 Enns, G. M. ACADEMIC PRESS INC ELSEVIER SCIENCE. 2010: S65-S71

    Abstract:

    Although the protocol that most experienced metabolic centers in the United States follow for treating acute hyperammonemia in urea cycle disorders (UCDs) is similar to that proposed by Brusilow and Batshaw in the early 1980s, over the years a steady evolution has taken place. Continued developments in intensive care, surgical and hemodialysis techniques, fluid and electrolyte management, cardiovascular support, and emergency transport have contributed to improved management of acute hyperammonemia. Compared to historical data, survival of urea cycle patients has also improved following treatment with alternative pathway therapy, in addition to appropriate supportive care, including the provision of adequate calories to prevent catabolism and promote anabolism and hemodialysis if needed. However, overall neurological outcomes have been suboptimal. There are currently a number of exciting prospective new therapies on the horizon, including novel medications or cell-based treatments. Nevertheless, the therapeutic expertise that is currently in place at centers specializing in management of metabolic emergencies already has the potential to improve survival and outcome in these children significantly. The early identification of UCD patients so that transport to a metabolic treatment center may be carried out without delay continues to be a major area of focus and challenge.

    View details for DOI 10.1016/j.ymgme.2010.02.007

    View details for Web of Science ID 000276985100011

    View details for PubMedID 20202877

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