Abstract
A male patient, born in 1999, was diagnosed with ornithine transcarbamylase deficiency as neonate and was managed with a strict low-protein diet supplemented with essential amino acids, l-citrulline, and l-arginine as well as sodium benzoate. He had an extensive history of hospitalizations for hyperammonemic crises throughout childhood and early adolescence, which continued after the addition of sodium phenylbutyrate in 2009. In December 2013 he was switched to glycerol phenylbutyrate, and his metabolic stability was greatly improved over the following 7 months prior to liver transplant.
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Acknowledgment
Glycerol phenylbutyrate (Ravicti®) was provided free of charge on a compassionate use basis by Hyperion Therapeutics. Medical writing assistance was provided by Jacqueline Wu, PhD, with funding provided by Horizon Pharma (current license holder of Ravicti®), but this had no influence on the content of the report or on interpretation of data. Alexander Laemmle was supported by competitive research grants from the EMDO Foundation Zurich (Grant 851 to JH and AL) and by the Children’s Research Center – University Children’s Hospital Zurich (Grant 10511 to AL) while working on this study. The work on urea cycle disorders is supported by the Swiss National Science Foundation (grant 310030_153196 to JH).
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Communicated by: Carlo Dionisi-Vici, MD
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Synopsis
An adolescent with ornithine transcarbamylase deficiency suffering from recurrent hyperammonemic crises showed a significant reduction of plasma ammonia and glutamine levels and a concomitant improvement of metabolic stability when therapy was switched from sodium phenylbutyrate to glycerol phenylbutyrate.
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Conflict of Interest
Alexander Laemmle and Tamar Stricker declare that they have no conflict of interest. Johannes Häberle declares the following conflict of interest: at the time of treatment with Ravicti®, he held a “Healthcare Professional Consulting Agreement” with Hyperion Therapeutics, then license holder of Ravicti®. This Consulting Agreement is continued with Horizon Pharma, the current license holder of Ravicti®.
However, all of the authors confirm full independence while treating the patient and while writing this article.
All of the authors participated in planning and performing conception, design, analysis and interpretation of data, drafting, and revising of the article.
Johannes Häberle is the responsible principle investigator and has decided to publish this case report which has not been previously reported elsewhere.
Written informed consent from the patient and the parents to use Ravicti® was obtained. Approval by the responsible ethical committee for using Ravicti® was not required as this was compassionate use.
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Laemmle, A., Stricker, T., Häberle, J. (2016). Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 31. JIMD Reports, vol 31. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_551
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DOI: https://doi.org/10.1007/8904_2016_551
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