Nonhepatic Hyperammonemic Encephalopathy Due to Undiagnosed Urea Cycle Disorder

Overview

Journal Proc (Bayl Univ Med Cent)

Specialty General Medicine

Date 2015 Jul 2

PMID 26130895

Citations 3

Authors

Tashfeen Mahmood

Kenneth Nugent

Affiliations

Soon will be listed here.

Abstract

Ornithine transcarbamoylase deficiency is the most common inherited urea cycle disorder. In adults, its phenotypes are diverse. In asymptomatic patients with late presentations, symptom onset is often associated with a precipitating factor. We present a case of a woman with urea cycle disorder diagnosed after an acute peptic ulcer bleed and fasting.

Citing Articles

Delayed Cerebral Abnormalities in Acute Hyperammonemic Encephalopathy.

Ito H, Ogawa Y, Shimojo N, Kawano S Cureus. 2020; 12(9):e10306.

PMID: 33052269 PMC: 7544550. DOI: 10.7759/cureus.10306.

Ammonia and coma - a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female.

Marquetand J, Freisinger P, Lindig T, Euler S, Gasser M, Overkamp D BMC Neurol. 2020; 20(1):118.

PMID: 32252669 PMC: 7132961. DOI: 10.1186/s12883-020-01700-9.

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

Upadhyay R, Bleck T, Busl K Case Rep Med. 2016; 2016:8512721.

PMID: 27738433 PMC: 5050374. DOI: 10.1155/2016/8512721.

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