title: Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.
abstract: BACKGROUND
  Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms.
  
  
  METHODS
  An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities.
  
  
  RESULTS
  These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring.
  
  
  CONCLUSIONS
  These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.
authors.affiliation: Department of Pediatrics, College of Medicine and Health Science, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates. aljasmif@uaeu.ac.ae.
authors.forename: Fatma
authors.initials: F
authors.lastname: Al Jasmi
authors.affiliation: King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, NGHA, Riyadh, Kingdom of Saudi Arabia. jumahm@gmail.com.|Prince Mohammed Ben Abdulaziz Hospital, MOH, P.O. Box 22490, Riyadh, 11426, Kingdom of Saudi Arabia. jumahm@gmail.com.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al Jumah
authors.affiliation: Neurology Department, National Neurosciences Institute, King Fahad Medical City, P.O. Box 59046, Riyadh, 11525, Kingdom of Saudi Arabia. alqarnifatimah@gmail.com.
authors.forename: Fatimah
authors.initials: F
authors.lastname: Alqarni
authors.affiliation: Johns Hopkins Aramco Healthcare, Pediatrics Services Division, Building 61/Room D-269, Dhahran, Kingdom of Saudi Arabia. nouriya.sannaa@jhah.com.
authors.forename: Nouriya
authors.initials: N
authors.lastname: Al-Sanna'a
authors.affiliation: Medical Genetics And Metabolic Consultant, MCH, PO Box 55954, Jeddah, 21544, Kingdom of Saudi Arabia. alzaid2@hotmail.com.
authors.forename: Fawziah
authors.initials: F
authors.lastname: Al-Sharif
authors.affiliation: Department of Neurosciences, MBC 76, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh, 11211, Kingdom of Saudi Arabia. boholega@kfshrc.edu.sa.
authors.forename: Saeed
authors.initials: S
authors.lastname: Bohlega
authors.affiliation: Department of Neuroscience, MBC J-76, King Faisal Specialist Hospital and Research Center, P.O. Box 40047, Jeddah, 21499, Kingdom of Saudi Arabia. cuplere@gmail.com.
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Cupler
authors.affiliation: Department of Pediatrics, Division of Child Neurology, Mafraq Hospital, P.O. Box: 2951, Abu Dhabi, United Arab Emirates. wfathalla@yahoo.com.
authors.forename: Waseem
authors.initials: W
authors.lastname: Fathalla
authors.affiliation: KidsHeart: American Fetal & Children's Heart Center, Dubai Healthcare City, P.O. Box 505193, Dubai, United Arab Emirates. mhamdan2@hotmail.com.
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Hamdan
authors.affiliation: Pediatric Department, Jahra Hospital, Ministry of Health, P.O. Box 16586, Qadisiya, 35856, Kuwait. nmakhseed@yahoo.com.
authors.forename: Nawal
authors.initials: N
authors.lastname: Makhseed
authors.affiliation: Department of Neurology, Tehran University of Medical Sciences, Shariati Hospital, North Karegar Street, Tehran, 14114, Iran. s_nafissi@yahoo.com.
authors.forename: Shahriar
authors.initials: S
authors.lastname: Nafissi
authors.affiliation: Pediatric Pathology Research Center, Mofid Children Hospital, Shahid Beheshti Medical University (SBMU), Shariati Avenue, Tehran, 15468-155514, Iran. yalnil@yahoo.com.
authors.forename: Yalda
authors.initials: Y
authors.lastname: Nilipour
authors.affiliation: Pediatric Neurology and Neurometabolic Division, Cairo University Children Hospital (Abo el Reesh), 1-Aly Pasha Ibrahim Street, Near Sayeda Zeinab Metro Station, Cairo, Egypt. lselim83@gmail.com.
authors.forename: Laila
authors.initials: L
authors.lastname: Selim
authors.affiliation: Pediatrics and Pediatric Neurology, Benghazi University, P.O. Box 1565, Benghazi, Libya. nurishembesh@yahoo.com.
authors.forename: Nuri
authors.initials: N
authors.lastname: Shembesh
authors.affiliation: Department of Pediatrics, Qatif Central Hospital, P.O. Box 18476, Dammam, 31911, Eastern Province, Kingdom of Saudi Arabia. rawdasunbul@yahoo.com.
authors.forename: Rawda
authors.initials: R
authors.lastname: Sunbul
authors.affiliation: Pediatric Neurology Research Center, Mofid Children Hospital, Shahid Beheshti Medical University (SBMU), Shariati Avenue, Tehran, 15468-155514, Iran. shtonekaboni@yahoo.com.
authors.forename: Seyed Hassan
authors.initials: SH
authors.lastname: Tonekaboni
mesh_terms: D000352:Africa, Northern / Q000453:epidemiology; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000628:therapy*; D006801:Humans; D008877:Middle East / Q000453:epidemiology; D017410:Practice Guidelines as Topic