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 |
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Pages (from-to) | 2461-2464 |
Number of pages | 4 |
Journal | Internal Medicine |
Volume | 52 |
Issue number | 21 |
DOIs | |
Publication status | Published - 2013 |
Keywords
- 4-glucosidase
- Acid phosphatase
- Adult-onset Pompe disease
- α-1
ASJC Scopus subject areas
- Internal Medicine