Ornithine transcarbamylase deficiency (OTCD) is a type of urea cycle disorder – a disease in which the body fails to clear toxic ammonia from the bloodstream. The accumulation of ammonia in the blood (hyperammonaemia) can lead to potentially life-threatening metabolic disturbances in affected individuals, known as acute metabolic decompensation. Several factors, including infection, are thought to precipitate these metabolic aberrations. In this study, Peter McGuire and colleagues identify infection as the most common cause of acute decompensation in a prospective cohort of individuals with OTCD. To explore the metabolic changes that occur, they developed an experimental mouse model in which decompensation with hyperammonaemia is triggered by influenza infection. In response to infection, mice demonstrated altered hepatic immune function and reductions in urea cycle enzyme activity and urea cycle intermediates. These findings could help guide the development of new approaches to manage acute metabolic decompensation in OTCD and related inborn errors of metabolism. Page 205
Role of infection in urea cycle disorders
- Split-screen
- Views Icon Views
-
Article Versions Icon
Versions
- Version of Record 01 February 2014
- Share Icon Share
-
Tools Icon
Tools
- Search Site
Role of infection in urea cycle disorders. Dis Model Mech 1 February 2014; 7 (2): e205. doi:
Download citation file:
Advertisement
Cited by
Special Issue: The RAS Pathway

Our latest special issue is now complete. It showcases RAS-driven mechanisms of disease progression, and highlights approaches to treat and modify the disease course in model systems.
Call for papers: Moving Heart Failure to Heart Success

Disease Models & Mechanisms is pleased to welcome submissions for consideration for an upcoming special issue, Moving Heart Failure to Heart Success: Mechanisms, Regeneration & Therapy. The deadline for submitting articles to the special issue has been extended to 1 August 2022.
Propose a new Workshop

Our Workshops bring together leading experts and early-career researchers from a range of scientific backgrounds. Applications are now open to propose Workshops for 2024, one of which will be held in a Global South country. .
A focus on Drosophila

In a series of front section articles, DMM is highlighting the versatility, breadth, and scope of Drosophila research in human disease modelling and translational medicine.
Apply for a DMM Conference Travel Grant

Aimed at early-career researchers wanting to attend in-person and virtual meetings, the next application deadline for a DMM Conference Travel Grant is 6 June 2022. Find out more and hear from past recipients about their experience of the grant.
Other journals from
The Company of Biologists