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

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 journal › Article › peer-review

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 language	English
Pages (from-to)	2461-2464
Number of pages	4
Journal	Internal Medicine
Volume	52
Issue number	21
DOIs	https://doi.org/10.2169/internalmedicine.52.0311
Publication status	Published - 2013

Keywords

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

ASJC Scopus subject areas

Internal Medicine

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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 journal › Article › peer-review

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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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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AU - Kozai, Yuko

AU - Matsuzono, Kosuke

AU - Takahashi, Yoshiaki

AU - Narai, Hisashi

AU - Omori, Nobuhiko

AU - Adachi, Kaori

AU - Nanba, Eiji

AU - Nishino, Ichizo

AU - Abe, Koji

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AB - 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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A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology

Abstract

Keywords

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