Late-onset Pompe disease in adults: clinical manifestations, diagnosis and treatment

Muruzheva Z.: Institute of Experimental Medicine, St Petersburg

Larionova V.: Institute of Experimental Medicine, St Petersburg

Novikov P.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Moiseev S.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

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Summary

Pompe disease is a rare inherited lisosomal storage disease characterized by accumulation of glycogen in muscular cells due to a deficient activity of acid a-glucosidase (GAA), an enzyme which degrades lysosomal glycogen. Late-onset Pompe disease can have onset at any age and sometimes mani fests in the elderly. It presents with a predominant proximal muscle weakness (limb girdle phenotype), moderately elevated serum creatine kinase and other muscle enzymes and respiratory dysfunction mainly due to a diaphragmatic weakness. Diagnosis requires low GAA activity in dried blood spots and genetic testing. The authors present the case of late-onset Pompe disease diagnosed in 45-year old male patient and discuss the efficacy of enzyme replacement therapy with recombinant GAA.

Key words

Late-onset Pompe disease, enzyme replacement therapy, alglucosidase alpha, avalglucosidase alpha.