Abstract
Ornithine transcarbamylase (OTC) deficiency is well known to cause severe neonatal hyperammonemia in males with absent enzyme activity. In families with large deletions of the X chromosome involving OTC and other contiguous genes, male infants appear to have an even more severe course. Notably, there are no published reports of these males surviving to liver transplant, even in cases where the diagnosis was known or suspected at birth. We describe two male newborns and their mother who all have a 1.5-Mb deletion of Xp11.4 encompassing the genes TSPAN7, OTC, and part of RPGR. The first child succumbed to his illness on his fourth day of life. His younger brother was diagnosed prenatally, and with early aggressive treatment, he survived the neonatal period. He suffered multiple life-threatening complications but stabilized and received a liver transplant at 7 months of age. This report demonstrates both the possibility of survival and the complications in caring for these patients.
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Acknowledgments
We want to thank the patients’ family for agreeing to participate in this report and for their amazing care of these young boys. We also acknowledge Dr. Bryan Hainline, Dr. Alyce Belonis, genetic counselors Katie Sapp and Kristyne Stone, and the rest of our care team who contributed greatly to the patients’ clinical care.
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Communicated by: Johannes Hðberle
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Synopsis
OTC deficiency resulting from contiguous Xp11.4 gene deletion is typically fatal in male neonates, but with early and conservative management, survival to transplant is possible.
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Author Contributions
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Molly McPheron: participated in patient care, researched pertinent literature, designed the outline of the report, wrote initial draft of the work, made corrections and revisions, approved final draft
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Melissa Lah: primary attending caring for the patients described, researched pertinent literature, involved in the design and planning of the paper, consulted during writing, revised the work, approved final draft
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Molly McPheron declares that she has no conflict of interest.
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Melissa Lah declares that she has no conflict of interest.
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The authors did not use any sources of funding for this report.
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This paper is exempt from IRB approval, as it is a case report and therefore does not qualify as human subject research.
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The family gave their consent for us to write this case report. There is no identifying information included in this article. All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study. Proof that informed consent was obtained can be provided on request.
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This article does not contain any studies with animal subjects performed by any of the authors.
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© 2018 Society for the Study of Inborn Errors of Metabolism (SSIEM)
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McPheron, M., Lah, M. (2018). Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 45. JIMD Reports, vol 45. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2018_145
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DOI: https://doi.org/10.1007/8904_2018_145
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