title: Pompe disease: literature review and case series.
abstract: Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in the acidic alpha glucosidase (GAA) gene. Significant progress had been made in the diagnosis and management of patients with Pompe disease. Here, we describe our experience with 12 patients with various forms of Pompe disease including 4 potentially pathogenic, novel GAA variants. We also review the recent the recent advances in the pathogenesis, diagnosis, and treatment of individuals with Pompe disease.
authors.affiliation: Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA; Department of Genetics, King Faisal Specialist Hospital & Research Center, MBC-03-30, PO Box 3354, Riyadh 11211, Saudi Arabia. Electronic address: mdasouki@kumc.edu.
authors.forename: Majed
authors.initials: M
authors.lastname: Dasouki
authors.affiliation: Department of Neurology, University of Kansas Medical Center, Mailstop 2012, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.
authors.forename: Omar
authors.initials: O
authors.lastname: Jawdat
authors.affiliation: Department of Pediatrics, University of Kansas Medical Center, Mailstop 4004, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.
authors.forename: Osama
authors.initials: O
authors.lastname: Almadhoun
authors.affiliation: Department of Neurology, University of Kansas Medical Center, Mailstop 2012, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.
authors.forename: Mamatha
authors.initials: M
authors.lastname: Pasnoor
authors.affiliation: Department of Neurology, University of Kansas Medical Center, Mailstop 2012, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.
authors.forename: April L
authors.initials: AL
authors.lastname: McVey
authors.affiliation: Department of Neurology, University of Kansas Medical Center, Mailstop 2012, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Abuzinadah
authors.affiliation: Department of Neurology, University of Kansas Medical Center, Mailstop 2012, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.
authors.forename: Laura
authors.initials: L
authors.lastname: Herbelin
authors.affiliation: Department of Neurology, University of Kansas Medical Center, Mailstop 2012, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Barohn
authors.affiliation: Department of Neurology, University of Kansas Medical Center, Mailstop 2012, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.
authors.forename: Mazen M
authors.initials: MM
authors.lastname: Dimachkie
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
keywords: Autosomal recessive; Enzyme replacement therapy; Hypotonia; Lysosomal glycogen storage disease; Metabolic myopathy; Newborn screening