title: Lysosomal Storage Disorders in Egyptian Children.
abstract: OBJECTIVE
  To describe the spectrum, relative prevalence and molecular background of lysosomal storage disorders in Egypt.
  
  
  METHODS
  The authors evaluated the selective screening program for the diagnosis of lysosomal storage disorders in Egyptian children presenting to the inherited metabolic disease unit at Cairo University Children's Hospital, the largest tertiary care pediatric hospital in Egypt, over a six-year period (April 2008 through April 2014). During this period, 1,065 suspected children were assessed clinically, biochemically and some genetically.
  
  
  RESULTS
  Two hundred and eleven children (aged 44 ± 32 mo; 56 % boys, 82 % with consanguineous parents) were confirmed with 21 different lysosomal disorders. The diagnostic gap ranged between 2 mo and 14 y (average 25 mo). Mucopolysaccharidoses were the most common group of diseases diagnosed (44.5 %), while Maroteaux-Lamy, Gaucher and nephropathic cystinosis were the most commonly detected syndromes (17.1, 14.7 and 13.7 %, respectively). Eighty mutant alleles and 17 pathogenic mutations were detected in 48 genetically assessed confirmed patients (30 Gaucher, 16 cystinosis and two Niemann-Pick type C patients).
  
  
  CONCLUSIONS
  This report is the first to describe relative frequency and spectrum of clinical and molecular data in a large cohort of Egyptian lysosomal patients. The crude estimate denotes that over 80 % of Egyptian lysosomal patients do not have access to optimal diagnosis. Upgrading diagnostic and genetic services for lysosomal storage disorders in Egypt is absolutely necessary.
authors.affiliation: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt. mohamed.abdelmonem@kasralainy.edu.eg.|Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt. mohamed.abdelmonem@kasralainy.edu.eg.|Clinical and Chemical Pathology Department, Inherited Metabolic Disease Laboratory, Faculty of Medicine, Cairo University, 2 Ali Pasha Ibrahim Street, Center of Social and Preventive Medicine, Room 409, Monira, Cairo, 11628, Egypt. mohamed.abdelmonem@kasralainy.edu.eg.
authors.forename: Mohamed A
authors.identifier: http://orcid.org/0000-0002-3154-1948
authors.initials: MA
authors.lastname: Elmonem
authors.affiliation: Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.|Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Iman G
authors.initials: IG
authors.lastname: Mahmoud
authors.affiliation: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.|Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.
authors.forename: Dina A
authors.initials: DA
authors.lastname: Mehaney
authors.affiliation: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.|Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.
authors.forename: Sahar A
authors.initials: SA
authors.lastname: Sharaf
authors.affiliation: Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.|Department of Pediatric Genetics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Sawsan A
authors.initials: SA
authors.lastname: Hassan
authors.affiliation: Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.|Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Azza
authors.initials: A
authors.lastname: Orabi
authors.affiliation: Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.|Department of Pediatric Genetics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Fadia
authors.initials: F
authors.lastname: Salem
authors.affiliation: Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.|Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Marian Y
authors.initials: MY
authors.lastname: Girgis
authors.affiliation: Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.|Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Amira
authors.initials: A
authors.lastname: El-Badawy
authors.affiliation: Department of Pediatric Hematology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Magy
authors.initials: M
authors.lastname: Abdelwahab
authors.affiliation: Department of Pediatric Cardiology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Zeinab
authors.initials: Z
authors.lastname: Salah
authors.affiliation: Center for Pediatric Nephrology and Transplantation (CPNT), Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.|Egyptian Group of Orphan Renal Diseases (EGORD), Cairo, Egypt.
authors.forename: Neveen A
authors.initials: NA
authors.lastname: Soliman
authors.affiliation: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.|Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.
authors.forename: Fayza A
authors.initials: FA
authors.lastname: Hassan
authors.affiliation: Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.|Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Laila A
authors.initials: LA
authors.lastname: Selim
mesh_terms: D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003241:Consanguinity; D004534:Egypt / Q000453:epidemiology; D005260:Female; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000453:epidemiology / Q000235:genetics; D008297:Male; D015995:Prevalence
keywords: Egyptian children; Enzymatic diagnosis; Genetic testing; Inborn errors of metabolism; Lysosomal storage disorders; Tandem mass spectrometry
references.citation: Clin Chim Acta. 2014 Apr 20;431:80-6
references.pmid: 24513544
references.citation: J Inherit Metab Dis. 2014 Jul;37(4):587-98
references.pmid: 24820227
references.citation: Sultan Qaboos Univ Med J. 2012 Aug;12(3):295-9
references.pmid: 22912921
references.citation: Nat Rev Neurol. 2013 Oct;9(10):583-98
references.pmid: 23938739
references.citation: Lancet. 2012 Jan 28;379(9813):335-41
references.pmid: 22133539
references.citation: Am J Hum Genet. 1999 Nov;65(5):1252-60
references.pmid: 10521290
references.citation: Eur J Hum Genet. 2004 Feb;12(2):87-92
references.pmid: 14685153
references.citation: J Inherit Metab Dis. 2010 Aug;33(4):339-46
references.pmid: 20084461
references.citation: JIMD Rep. 2014;14:87-97
references.pmid: 24464559
references.citation: Hum Genet. 1999 Jul-Aug;105(1-2):151-6
references.pmid: 10480370
references.citation: Ann Saudi Med. 2010 Jul-Aug;30(4):271-7
references.pmid: 20622343
references.citation: JIMD Rep. 2014;12:51-63
references.pmid: 23852624
references.citation: J Pediatr. 2002 Mar;140(3):321-7
references.pmid: 11953730
references.citation: Arch Intern Med. 2000 Oct 9;160(18):2835-43
references.pmid: 11025794
references.citation: Clin Biochem. 2014 Jun;47(9):823-8
references.pmid: 24731791
references.citation: JAMA. 1999 Jan 20;281(3):249-54
references.pmid: 9918480
references.citation: Reprod Health. 2009 Oct 08;6:17
references.pmid: 19811666
references.citation: Clin Biochem. 2013 Feb;46(3):271-4
references.pmid: 23078879
references.citation: J Child Neurol. 2014 Oct;29(10):1377-82
references.pmid: 24700663
references.citation: Genome Res. 2000 Feb;10(2):165-73
references.pmid: 10673275
references.citation: JIMD Rep. 2013;10:1-9
references.pmid: 23430803
references.citation: Hum Genomics. 2011 Mar;5(3):156-69
references.pmid: 21504867
references.citation: J Inherit Metab Dis. 2010 Aug;33(4):387-96
references.pmid: 20490927
references.citation: Health Technol Assess. 2004 Mar;8(12 ):iii, 1-121
references.pmid: 14982654
references.citation: JIMD Rep. 2012;6:117-25
references.pmid: 23430949
references.citation: Pediatrics. 2009 Apr;123(4):1191-207
references.pmid: 19336380