Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.

ABSTRACT:

Objectives

The m.3243A>G MTTL1 mutation is the most common cause of mitochondrial disease; yet there is limited awareness of intestinal pseudo-obstruction (IPO) in this disorder. We aimed to determine the prevalence, severity, and clinical outcome of patients with m.3243A>G-related mitochondrial disease manifesting with IPO.

Methods

In this large, observational cohort study, we assessed the clinical, molecular, and radiological characteristics of patients with genetically determined m.3243A>G-related mitochondrial disease, who presented with severe symptoms suggestive of bowel obstruction in the absence of an occluding lesion.

Results

Between January 2009 and June 2015, 226 patients harbouring the m.3243A>G mutation were recruited to the Medical Research Council Centr

SUBMITTER: Ng YS 

PROVIDER: S-EPMC5215534 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature