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

Fingerprint

Glycogen Storage Disease Type II
Inclusion Bodies
Pathology
Acid Phosphatase
Mutation
Glucosidases
Genes
Creatine Kinase
Respiratory Insufficiency
Molecular Biology
Muscles
Acids
Serum

Keywords

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

ASJC Scopus subject areas

  • Internal Medicine

Cite this

A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology. / Fujimoto, Shohei; Manabe, Yasuhiro; Fujii, Daiki; Kozai, Yuko; Matsuzono, Kosuke; Takahashi, Yoshiaki; Narai, Hisashi; Omori, Nobuhiko; Adachi, Kaori; Nanba, Eiji; Nishino, Ichizo; Abe, Koji.

In: Internal Medicine, Vol. 52, No. 21, 2013, p. 2461-2464.

Research output: Contribution to journalArticle

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, vol. 52, no. 21, pp. 2461-2464. https://doi.org/10.2169/internalmedicine.52.0311
Fujimoto, Shohei ; Manabe, Yasuhiro ; Fujii, Daiki ; Kozai, Yuko ; Matsuzono, Kosuke ; Takahashi, Yoshiaki ; Narai, Hisashi ; Omori, Nobuhiko ; Adachi, Kaori ; Nanba, Eiji ; Nishino, Ichizo ; Abe, Koji. / A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology. In: Internal Medicine. 2013 ; Vol. 52, No. 21. pp. 2461-2464.
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