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

6 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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10.2169/internalmedicine.52.0311

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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.",

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

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language = "English",

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T1 - A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology

AU - Fujimoto, Shohei

AU - Manabe, Yasuhiro

AU - Fujii, Daiki

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

PY - 2013

Y1 - 2013

N2 - 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.

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.

KW - 4-glucosidase

KW - Acid phosphatase

KW - Adult-onset Pompe disease

KW - α-1

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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

ASJC Scopus subject areas

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