Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

ABSTRACT:

Objectives

This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis.

Methods

The reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal storage diseases [LSD]) at Tawam Hospital Metabolic Center in Abu Dhabi, United Arab Emirates, between January 1995 and May 2013. Disease prevalence (per 100,000 live births) was estimated from data available for 1995-2011.

Results

In 189 patients, 57 distinct IEM were diagnosed, of which 20 (35%) entities were previously reported LSD (65 patients with 39 mutations), with a birth prevalence of 26.87/100,000. This study investigated the remaining 37 (65%) patients with other IEM (124 patients with 62 mutations). Mutation

SUBMITTER: Al-Shamsi A 

PROVIDER: S-EPMC3916276 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature