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Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report

Overview of attention for article published in Journal of Medical Case Reports, November 2015
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1 tweeter
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1 Google+ user

Citations

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33 Mendeley
Title
Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report
Published in
Journal of Medical Case Reports, November 2015
DOI 10.1186/s13256-015-0741-2
Pubmed ID
Authors

Majid Alameri, Mustafa Shakra, Taoufik Alsaadi

Abstract

Unexplained hyperammonemic coma in adults can be a medical dilemma in the absence of triggering factors and known comorbidities. Ornithine transcarbamylase deficiency presents most commonly with hyperammonemic coma. Although a rare disorder, ornithine transcarbamylase deficiency is the most common of the urea cycle disorders, which can occur both in children, and less commonly, in adults. The urea cycle disorder is usually acquired as an X-linked trait, and very rarely, similar to our reported case, may be acquired as a "new" mutation. Mutations that lead to later-onset presentations may lead to life-threatening disease and may be unrecognized, particularly when the first clinical symptoms occur in adulthood. We report the case of a previously healthy 17-year-old white man who developed a prolonged seizure and a rapid decline in mental status leading to coma over a 3-day period. Analysis of the OTC gene showed a 119G variant, which was identified in exon 2 of the OTC gene by sequencing. A diagnosis of ornithine transcarbamylase deficiency should be considered in adult patients who present with unexplained hyperammonemic coma and for all adult patients presenting with cryptogenic new-onset seizure and laboratory finding of elevated blood ammonia levels. This reported case highlights the importance of early recognition of this potentially reversible cause of life-threatening encephalopathy, as timely recognition and appropriate treatment can be lifesaving.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 33 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 15%
Student > Bachelor 5 15%
Student > Postgraduate 3 9%
Student > Master 3 9%
Student > Ph. D. Student 2 6%
Other 5 15%
Unknown 10 30%
Readers by discipline Count As %
Medicine and Dentistry 16 48%
Biochemistry, Genetics and Molecular Biology 4 12%
Immunology and Microbiology 1 3%
Physics and Astronomy 1 3%
Agricultural and Biological Sciences 1 3%
Other 1 3%
Unknown 9 27%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 08 September 2018.
All research outputs
#7,767,745
of 13,483,547 outputs
Outputs from Journal of Medical Case Reports
#585
of 2,311 outputs
Outputs of similar age
#111,927
of 217,829 outputs
Outputs of similar age from Journal of Medical Case Reports
#1
of 1 outputs
Altmetric has tracked 13,483,547 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,311 research outputs from this source. They receive a mean Attention Score of 3.2. This one has gotten more attention than average, scoring higher than 69% of its peers.
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We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them