title: Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.
abstract: Diagnosis of adult-onset Pompe disease is sometimes challenging because of its clinical similarities to muscular dystrophy and the paucity of disease-specific vacuolated fibers in the skeletal muscle pathology. We describe two patients with adult-onset Pompe disease whose muscle pathology showed no typical vacuolated fibers but did show unique globular inclusions with acid phosphatase activity. The acid phosphatase-positive globular inclusions may be a useful diagnostic marker for adult-onset Pompe disease even when typical vacuolated fibers are absent.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Rie S
authors.initials: RS
authors.lastname: Tsuburaya
authors.forename: Kazunari
authors.initials: K
authors.lastname: Monma
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Oya
authors.forename: Takahiro
authors.initials: T
authors.lastname: Nakayama
authors.forename: Tokiko
authors.initials: T
authors.lastname: Fukuda
authors.forename: Hideo
authors.initials: H
authors.lastname: Sugie
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000135:Acid Phosphatase / Q000235:genetics / Q000378:metabolism*; D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000201:enzymology*; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D000135:Acid Phosphatase; D000520:alpha-Glucosidases