title: [Diagnosis and therapy of late onset Pompe disease].
abstract: As Pompe disease glycogen storage disease type 2 with a severely reduced life expectancy is now a treatable disorder, accurate diagnostic procedures and evidence-based indications for therapy are mandatory. We screened the literature for consensus reports and published trial data of late-onset Pompe disease. These data were summarized in a Delphi consensus method approach. The clinical suspicion of late-onset Pompe disease should be substantiated by the validated dry blood spot test measurement for acid α-glucosidase activity. Alternatively, enzyme activity analysis in lymphocytes is also feasible. Glucosidase α gene sequencing for verifying the diagnosis is recommended. A muscle biopsy including measurements of acid α-glucosidase activity and glycogen concentration is warranted for differential diagnosis in selected cases. The confirmed diagnosis should lead to a multidisciplinary treatment approach, possibly including enzyme replacement therapy.
authors.affiliation: Friedrich-Baur-Institut, Neurologische Klinik, Klinikum der Universität München, Ziemssenstr. 1a, 80336, München, Deutschland.
authors.forename: A
authors.initials: A
authors.lastname: Schüller
authors.forename: C
authors.initials: C
authors.lastname: Kornblum
authors.forename: M
authors.initials: M
authors.lastname: Deschauer
authors.forename: M
authors.initials: M
authors.lastname: Vorgerd
authors.forename: B
authors.initials: B
authors.lastname: Schrank
authors.forename: E
authors.initials: E
authors.lastname: Mengel
authors.forename: Z
authors.initials: Z
authors.lastname: Lukacs
authors.forename: D
authors.initials: D
authors.lastname: Gläser
authors.forename: P
authors.initials: P
authors.lastname: Young
authors.forename: U
authors.initials: U
authors.lastname: Plöckinger
authors.forename: B
authors.initials: B
authors.lastname: Schoser
mesh_terms: D000328:Adult; D000367:Age Factors; D001706:Biopsy; D003299:Cooperative Behavior; D003430:Cross-Sectional Studies; D003697:Delphi Technique; D003937:Diagnosis, Differential; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000188:drug therapy* / Q000453:epidemiology; D019983:Guideline Adherence; D006801:Humans; D033183:Interdisciplinary Communication; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology; D009460:Neurologic Examination; D016032:Randomized Controlled Trials as Topic; D000520:alpha-Glucosidases / Q000627:therapeutic use
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases