Ornithine Transcarbamylase Deficiency: Diagnostic and Management Challenges in the ICU-Reference-Cited by-同舟云学术

Ornithine Transcarbamylase Deficiency: Diagnostic and Management Challenges in the ICU

Published:2013-07 Issue:3 Volume:14 Page:255-258
ISSN:1751-1437
Container-title:Journal of the Intensive Care Society
language:en
Short-container-title:Journal of the Intensive Care Society

Author:

Watt Philip¹,lordache Sabina²,Russell Philip³

Affiliation:

1. Consultant Anaesthetist with interest in ICM, Lead Clinician for ICU, Kettering General Hospital NHS Foundation Trust

2. Specialist Trainee Year 3 Anaesthesia, Central Middlesex Hospital, The North West London Hospitals NHS Trust

3. Core Trainee Year 2 Anaesthetics, Pilgrim Hospital, Boston

Abstract

A young male patient presented with altered sensorium and rapid clinical deterioration following a short period of nonspecific illness and was subsequently diagnosed with ornithine transcarbamylase deficiency (OTCD). We discuss the pathophysiology of OTCD, the difficulties surrounding diagnosis and treatment, and highlight some of the controversies and general management issues of the disease.

Publisher

SAGE Publications

Subject

Critical Care and Intensive Care Medicine,Critical Care Nursing

Link

http://journals.sagepub.com/doi/pdf/10.1177/175114371301400315

Reference15 articles.

1. Urea cycle disorders

2. Continuous venovenous haemofiltration in hyperammonaemic coma of an adult with non-diagnosed partial ornithine transcarbamylase deficiency

3. Genetic Counseling Issues in Urea Cycle Disorders

4. Hepatic encephalopathy: An approach to its multiple pathophysiological features

5. Unmasked Adult-Onset Urea Cycle Disorders in the Critical Care Setting

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