title: Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain.
abstract: Mandatory newborn screening for metabolic disorders has not been implemented in most Middle Eastern countries. Early detection and treatment of inborn errors of metabolism can reduce mortality and minimize morbidity. Preliminary studies conducted in some parts of Middle East suggest that the incidences of inborn errors of metabolism are reported to be higher in the region than anywhere else in the world due to the consanguinity. In this study the incidence of inborn errors of amino acids, organic acids and fatty acids oxidation disorders was investigated from the results of blood spot analysis of 1986 symptomatic children from 1st January 2008 to 31st of December 2011. Out of 1986 newborns screened 25 infants were diagnosed and confirmed with amino acids (n=11), organic acids (n=9) and fatty acids oxidation (n=5) disorders. Overall incidences based on number of live birth between 2008 and 2011 inclusive were 1:6000, 1:8000 and 1:14,000 for amino acids, organic acids and fatty acids oxidation disorders; respectively. Out of 25 infants diagnosed, 21 were the children of first cousin marriages. Results from this study suggest high incidence of inborn errors of amino acids, organic acids and fatty acids oxidation metabolism in Bahrain and significant contribution of consanguinity in inherited metabolic disorders. Mandatory screening for inborn errors of metabolism in Bahrain is highly recommended.
authors.affiliation: Department of Molecular Medicine, College of Medicine and Medical Sciences, AGU, Manama, Bahrain. jamalgo@agu.edu.bh
authors.forename: J
authors.initials: J
authors.lastname: Golbahar
authors.forename: E A
authors.initials: EA
authors.lastname: Al-Jishi
authors.forename: D D
authors.initials: DD
authors.lastname: Altayab
authors.forename: E
authors.initials: E
authors.lastname: Carreon
authors.forename: M
authors.initials: M
authors.lastname: Bakhiet
authors.forename: H
authors.initials: H
authors.lastname: Alkhayyat
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D000596:Amino Acids / Q000235:genetics / Q000378:metabolism; D001445:Bahrain; D042241:Early Diagnosis; D005227:Fatty Acids / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D015997:Neonatal Screening; D021241:Spectrometry, Mass, Electrospray Ionization; D053719:Tandem Mass Spectrometry
chemical_list: D000596:Amino Acids; D005227:Fatty Acids
keywords: Bahrain; Inborn errors of metabolism; Selective screening