Glycogenosis type II (Pompe disease) is a lysosomal storage disease caused by deficiency of acid α - glucosidase (acid maltase). The disease is autosomal recessive inherited and is clinically and genetically heterogenous. The authors describe a 30- year- old woman affected by late- onset Pompe disease with vascular affection resembling atherosclerotic angiopathy of the elderly. Genetic analysis revealed two novel mutations (Ala237Val and Gly293Arg) in the acid α - glucosidase gene in this patient.
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