title: Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.
abstract: To estimate the burden of metabolic disorders detectable by tandem mass spectrometry in Egypt, through a pilot expanded newborn screening programme at Cairo University Children's Hospital in 2008, and examining the results of 3,900 clinically at-risk children, investigated at Cairo University Children's Hospital for the same disorders over the past 7 years using the same technology.
  
  
  
  Dried blood spots of 25,276 healthy newborns from three governorates in Upper, Middle, and Lower Egypt were screened, to give a representative sample of the Egyptian newborn population. Based on the pilot study outcomes and the results of clinically suspected children, we estimated the total birth prevalence of tandem mass spectrometry detectable metabolic disorders, and the relative frequency of several individual disorders.
  
  
  
  Among the healthy newborns, 13 metabolic disorder cases (five phenylketonuria [1:5,000], two methylmalonic acidemia, and isovaleric acidemia [1:12,500], one each of maple syrup urine disease, propionic acidemia, β-ketothiolase deficiency, and primary carnitine deficiency [1:25,000]) were confirmed, giving a total birth prevalence of 1:1944 live births. Among the clinically suspected children, 235 cases were diagnosed, representing a much wider disease spectrum.
  
  
  
  Egypt has one of the highest reported birth prevalence rates for metabolic disorders detectable by tandem mass spectrometry. Early diagnosis and management are crucial for the survival and well-being of affected children. A nationwide NBS programme by tandem mass spectrometry is recommended.
authors.affiliation: Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt.
authors.forename: Fayza A
authors.initials: FA
authors.lastname: Hassan
authors.affiliation: Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt.
authors.forename: Fatma
authors.initials: F
authors.lastname: El-Mougy
authors.affiliation: Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt.
authors.forename: Sahar A
authors.initials: SA
authors.lastname: Sharaf
authors.affiliation: Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt.
authors.forename: Iman
authors.initials: I
authors.lastname: Mandour
authors.affiliation: Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt.
authors.forename: Marian F
authors.initials: MF
authors.lastname: Morgan
authors.affiliation: Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Laila A
authors.initials: LA
authors.lastname: Selim
authors.affiliation: Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Sawsan A
authors.initials: SA
authors.lastname: Hassan
authors.affiliation: Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Fadia
authors.initials: F
authors.lastname: Salem
authors.affiliation: Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Azza
authors.initials: A
authors.lastname: Oraby
authors.affiliation: Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Marian Y
authors.initials: MY
authors.lastname: Girgis
authors.affiliation: Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt.
authors.forename: Iman G
authors.initials: IG
authors.lastname: Mahmoud
authors.affiliation: Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt.
authors.forename: Amira
authors.initials: A
authors.lastname: El-Badawy
authors.affiliation: Ministry of Health & Population, Cairo, Egypt.
authors.forename: Ibrahim
authors.initials: I
authors.lastname: El-Nekhely
authors.affiliation: Ministry of Health & Population, Cairo, Egypt.
authors.forename: Nadia
authors.initials: N
authors.lastname: Moharam
authors.affiliation: Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt.
authors.forename: Dina A
authors.initials: DA
authors.lastname: Mehaney
authors.affiliation: Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt mohamed.abdelmonem@kasralainy.edu.eg.
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Elmonem
mesh_terms: D004534:Egypt / Q000453:epidemiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology*; D015997:Neonatal Screening / Q000379:methods*; D017063:Outcome Assessment, Health Care; D010865:Pilot Projects; D015995:Prevalence; D053719:Tandem Mass Spectrometry
keywords: Inborn errors of metabolism; newborn screening; tandem mass spectrometry