Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature

Overview

Journal Case Rep Med

Publisher Wiley

Specialty General Medicine

Date 2016 Oct 15

PMID 27738433

Citations 19

Authors

Ruby Upadhyay

Thomas P Bleck

Katharina M Busl

Affiliations

Soon will be listed here.

Abstract

. A 66-year-old man who presented with coma was found to have isolated severe hyperammonemia and diagnosed with a late-onset urea-cycle disorder. He was treated successfully and had full recovery. . We report a novel case of noncirrhotic hyperammonemia and review the literature on this topic. Selected literature for review included English-language articles concerning hyperammonemia using the search terms "hyperammonemic encephalopathy", "non-cirrhotic encephalopathy", "hepatic encephalopathy", "urea-cycle disorders", "ornithine transcarbamylase (OTC) deficiency", and "fulminant hepatic failure". . A unique case of isolated hyperammonemia diagnosed as late-onset OTC deficiency is presented. Existing evidence about hyperammonemia is organized to address pathophysiology, clinical presentation, diagnosis, and treatment. The case report is discussed in context of the reviewed literature. . Late-onset OTC deficiency presenting with severe hyperammonemic encephalopathy and extensive imaging correlate can be fully reversible if recognized promptly and treated aggressively.

Citing Articles

Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment.

Yamamoto S, Yamashita S, Kakiuchi T, Kurogi K, Nishi T, Tago M Am J Case Rep. 2022; 23:e937658.

PMID: 36377209 PMC: 9676062. DOI: 10.12659/AJCR.937658.

Nonhepatic Hyperammonemia With Septic Shock: Case and Review of Literature.

Dalsania N, Kundu S, Patti R, Somal N, Kupfer Y J Investig Med High Impact Case Rep. 2022; 10:23247096221101855.

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Extrahepatic portosystemic shunts as an unusual but treatable cause of hyperammonemic encephalopathy in a noncirrhotic patient - a case report.

Kuhne Escola J, Theysohn J, Li Y, Forsting M, Capetian P, Volkmann J Ther Adv Neurol Disord. 2022; 15:17562864221097614.

PMID: 35586833 PMC: 9109486. DOI: 10.1177/17562864221097614.

New Insight in Hyperinsulinism/Hyperammonemia Syndrome by Magnetic Resonance Imaging and Spectroscopy.

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