title: Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
abstract: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type and distribution of IEMs in patients presenting to a tertiary care center in Saudi Arabia.
  
  
  
  We conducted a retrospective review of children diagnosed with IEMs presenting to the Pediatric Department of King Abdulaziz Medical City in Riyadh, Saudi Arabia over a 13-year period.
  
  
  
  Over the 13- year period of this retrospective cohort, the total number of live births reached 110,601. A total of 187 patients were diagnosed with IEMs, representing a incidence of 169 in 100,000 births (1:591). Of these, 121 patients (64.7 %) were identified to have small molecule diseases and 66 (35.3 %) to have large molecule diseases. Organic acidemias were the most common small molecule IEMs, while lysosomal storage disorders (LSD) were the most common large molecule diseases. Sphingolipidosis were the most common LSD.
  
  
  
  Our study confirms the previous results of the high rate of IEMs in Saudi Arabia and urges the health care strategists in the country to devise a long-term strategic plan, including an IEM national registry and a high school carrier screening program, for the prevention of such disorders. In addition, we identified 43 novel mutations that were not described previously, which will help in the molecular diagnosis of these disorders.
authors.affiliation: Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia. dralfadhelm@gmail.com.|King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia. dralfadhelm@gmail.com.|Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia. dralfadhelm@gmail.com.|Division of Genetics, Department of Pediatrics King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, PO Box 22490, 11426, Saudi Arabia. dralfadhelm@gmail.com.
authors.forename: Majid
authors.identifier: 0000-0002-9427-7240
authors.initials: M
authors.lastname: Alfadhel
authors.affiliation: King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Benmeakel
authors.affiliation: Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Advanced Clinical Research Center, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, Japan.
authors.forename: Mohammad Arif
authors.initials: MA
authors.lastname: Hossain
authors.affiliation: Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
authors.forename: Fuad
authors.initials: F
authors.lastname: Al Mutairi
authors.affiliation: King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.|Department of Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
authors.forename: Ali
authors.initials: A
authors.lastname: Al Othaim
authors.affiliation: Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.|Department of Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Qassim University, College of Medicine, Department of Pediatrics, Almulyda, Saudi Arabia.
authors.forename: Ahmed A
authors.initials: AA
authors.lastname: Alfares
authors.affiliation: King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.|Department of Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al Balwi
authors.affiliation: Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Alzaben
authors.affiliation: Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
authors.forename: Wafaa
authors.initials: W
authors.lastname: Eyaid
mesh_terms: D005260:Female; D006801:Humans; D015994:Incidence; D016464:Lysosomal Storage Diseases / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000453:epidemiology* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D012189:Retrospective Studies; D012529:Saudi Arabia / Q000453:epidemiology; D013106:Sphingolipidoses / Q000453:epidemiology / Q000235:genetics
keywords: Fatty acid oxidation defects; IEMs; Inborn errors of metabolism; Lysosomal; Mitochondrial; Organic acidemia; Saudi Arabia