title: A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology.
abstract: We herein report a novel compound heterozygous mutation of the acid α-glucosidase (GAA) gene in a 23-year-old man with adult-onset Pompe disease. The patient was admitted for respiratory failure and a highly elevated serum level of creatine kinase (CK). His muscle pathology did not show typical vacuolated fibers; however, globular inclusion bodies with acid phosphatase (ACP) activity was observed. A molecular genetic analysis of the GAA gene revealed a novel compound heterozygous mutation, c.1544 T>A (M515K), combined with a previously reported mutation, c.1309 C>T (R437C). The presence of ACP-positive globular inclusion bodies is a useful diagnostic marker for adult-onset Pompe disease, even when typical vacuolated fibers are absent.
authors.affiliation: Department of Neurology, National Hospital Organization Okayama Medical Center, Japan.
authors.forename: Shohei
authors.initials: S
authors.lastname: Fujimoto
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Manabe
authors.forename: Daiki
authors.initials: D
authors.lastname: Fujii
authors.forename: Yuko
authors.initials: Y
authors.lastname: Kozai
authors.forename: Kosuke
authors.initials: K
authors.lastname: Matsuzono
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Hisashi
authors.initials: H
authors.lastname: Narai
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Omori
authors.forename: Kaori
authors.initials: K
authors.lastname: Adachi
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Koji
authors.initials: K
authors.lastname: Abe
mesh_terms: D017668:Age of Onset; D019943:Amino Acid Substitution; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005087:Glucan 1,4-alpha-Glucosidase / Q000235:genetics*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D055815:Young Adult
chemical_list: D005087:Glucan 1,4-alpha-Glucosidase