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 | |
| Publication status | Published - 2013 |
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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 journal › Article
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TY - JOUR
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 - α-1
KW - 4-glucosidase
KW - Acid phosphatase
KW - Adult-onset Pompe disease
UR - http://www.scopus.com/inward/record.url?scp=84887063476&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84887063476&partnerID=8YFLogxK
U2 - 10.2169/internalmedicine.52.0311
DO - 10.2169/internalmedicine.52.0311
M3 - Article
C2 - 24190153
AN - SCOPUS:84887063476
VL - 52
SP - 2461
EP - 2464
JO - Internal Medicine
JF - Internal Medicine
SN - 0918-2918
IS - 21
ER -