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

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)2461-2464
Number of pages4
JournalInternal Medicine
Volume52
Issue number21
DOIs
Publication statusPublished - 2013

Keywords

  • 4-glucosidase
  • Acid phosphatase
  • Adult-onset Pompe disease
  • α-1

ASJC Scopus subject areas

  • Internal Medicine

Fingerprint Dive into the research topics of 'A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology'. Together they form a unique fingerprint.

  • Cite this

    Fujimoto, S., Manabe, Y., Fujii, D., Kozai, Y., Matsuzono, K., Takahashi, Y., Narai, H., Omori, N., Adachi, K., Nanba, E., Nishino, I., & Abe, K. (2013). A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology. Internal Medicine, 52(21), 2461-2464. https://doi.org/10.2169/internalmedicine.52.0311