A Novel Mutation of the GAA Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology

Shohei Fujimoto; Yasuhiro Manabe; Daiki Fujii; Yuko Kozai; Kosuke Matsuzono; Yoshiaki Takahashi; Hisashi Narai; Nobuhiko Omori; Kaori Adachi; Eiji Nanba; Ichizo Nishino; Koji Abe

doi:10.2169/internalmedicine.52.0311

CASE REPORTS

A Novel Mutation of the GAA Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology

Shohei Fujimoto, Yasuhiro Manabe, Daiki Fujii, Yuko Kozai, Kosuke Matsuzono, Yoshiaki Takahashi, Hisashi Narai, Nobuhiko Omori, Kaori Adachi, Eiji Nanba, Ichizo Nishino, Koji Abe

Author information

Shohei Fujimoto
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
Yasuhiro Manabe
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
Daiki Fujii
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
Yuko Kozai
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
Kosuke Matsuzono
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
Yoshiaki Takahashi
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
Hisashi Narai
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
Nobuhiko Omori
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
Kaori Adachi
Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan
Eiji Nanba
Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan
Ichizo Nishino
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan
Koji Abe
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan

Keywords: adult-onset Pompe disease, α-1,4-glucosidase, acid phosphatase

JOURNAL OPEN ACCESS

2013 Volume 52 Issue 21 Pages 2461-2464

DOI https://doi.org/10.2169/internalmedicine.52.0311

Details

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.

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