title: New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.
abstract: OBJECTIVE
  To identify the mutations underlying a number of inborn errors of metabolism (IEM) disorders among United Arab Emirates (UAE) residents.
  
  
  METHODS
  Molecular diagnostic and bioinformatics tools were used to identify the causative mutations of IEM disorders from multi-ethnic patients residing in UAE. The study was conducted in Al-Ain, UAE, between April 2009 and September 2010. This is a case series retrospective study where patients attending the metabolic clinic at Tawam Hospital were recruited. Thirty patients and 26 parents were included.
  
  
  RESULTS
  We present evidence in the UAE of 7 new mutations and 19 mutations that have previously been reported in other populations, all causing a number of common IEM disorders, including phenylketonuria, maple syrup urine disease, glycogen storage diseases, beta-ketothiolase deficiency, and Zellweger syndrome among many others.
  
  
  CONCLUSIONS
  Reflecting the diverse ethnic groups residing in the UAE, we found mutations in several different population groups. However, consanguinity is evident in most cases. This report is of utmost importance for taking the necessary steps toward the prevention of inherited disorders, not just in the UAE, but anywhere in the world where these Arab and Asian populations reside, or where consanguinity is a cultural norm.
authors.affiliation: Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al-Ain, United Arab Emirates. bassam.ali@uaeu.ac.ae
authors.forename: Bassam R
authors.initials: BR
authors.lastname: Ali
authors.forename: Jozef L
authors.initials: JL
authors.lastname: Hertecant
authors.forename: Fatima A
authors.initials: FA
authors.lastname: Al-Jasmi
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Hamdan
authors.forename: Sawsan F
authors.initials: SF
authors.lastname: Khuri
authors.forename: Nadia A
authors.initials: NA
authors.lastname: Akawi
authors.forename: Lihadh I
authors.initials: LI
authors.lastname: Al-Gazali
mesh_terms: D005828:Genetics, Population; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D012189:Retrospective Studies; D014479:United Arab Emirates