Adult-Onset Hyperammonemia: Case Report and Review of Literature.

Authors

Zehra Naseem, Amala Alenchery, Sarah Yuann Kim, Omar T Sims, Kadakkal Radhakrishnan, Sobia Nasir Laique

Published in

Case reports in gastroenterology. Volume 20. Issue 1. Pages 329-341. Epub Jul 10, 2026.

Abstract

Hyperammonemia is a life-threatening condition most associated with liver disease, though non-cirrhotic causes are increasingly recognized.
We report an 18-year-old female presenting with 1 week of progressive confusion, abdominal pain, and nausea. Initial evaluation showed normal routine laboratories but markedly elevated ammonia and respiratory alkalosis. She rapidly deteriorated, requiring intubation and intensive care. Ammonia peaked at 795 µg/dL and improved rapidly after urgent venous hemofiltration and medical therapy, with full neurological recovery by day 3. Further testing revealed late-onset ornithine transcarbamylase deficiency.
We present an algorithm for the approach to hyperammonemia and urea cycle disorders through a comprehensive review of current diagnostic and therapeutic strategies pertaining to urea cycle disorders.

PMID:
42626463
Bibliographic data and abstract were imported from PubMed on 14 Oct 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.