Internal medicine (Tokyo, Japan) · 2013
A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology.
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Fujimoto Shohei, Manabe Yasuhiro, Fujii Daiki, Kozai Yuko, Matsuzono Kosuke, Takahashi Yoshiaki, Narai Hisashi, Omori Nobuhiko, Adachi Kaori, Nanba Eiji, Nishino Ichizo, Abe Koji
Аннотация
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.