Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

ABSTRACT:

Background

This study reports on the use of whole exome sequencing (WES) to diagnose children with inborn errors of metabolism and other disorders in United Arab Emirates.

Methods

From January 2012 to December 2014, 85 patients (46 % females) were seen in the metabolic center at Tawam Hospital (Abu Dhabi) and WES testing was requested because definitive diagnoses were not reached by conventional methods.

Results

Eighty (93 %) patients were <18 years old and 44 (52 %) were <5 years. Sixty-eight (80 %) patients had neurologic abnormalities. WES facilitated rapid diagnosis in 50 % of the patients, especially those with mitochondrial disorders. Yet, in most cases extensive investigation was required after the results were available. Most patients with confirmed molecular

SUBMITTER: Al-Shamsi A 

PROVIDER: S-EPMC4939014 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature