Abstract
Pompe disease (glycogenosis II, acid maltase deficiency, OMIM 232300) is a treatable autosomal recessive disorder of glycogen metabolism caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. A hallmark of Pompe disease is the presence of glycogen-loaded lysosomes. Pompe disease has frequently been misdiagnosed as other myopathies, such as polymyositis, and mistakenly treated with steroids. A rheumatology based practice survey is being designed to establish the incidence of Pompe disease and other myopathies in patients with atypical steroid-unresponsive presumed myopathies (ASUPM).
Highlights
Pompe disease is a treatable autosomal recessive disorder of glycogen metabolism caused by deficiency of the lysosomal enzyme acid alpha-glucosidase
Pompe disease has frequently been misdiagnosed as other myopathies, such as polymyositis, and mistakenly treated with steroids
A rheumatology based practice survey is being designed to establish the incidence of Pompe disease and other myopathies in patients with atypical steroid-unresponsive presumed myopathies (ASUPM)
Summary
Pompe disease (glycogenosis II, acid maltase deficiency, OMIM 232300) is a treatable autosomal recessive disorder of glycogen metabolism caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. A hallmark of Pompe disease is the presence of glycogen-loaded lysosomes. Pompe disease has frequently been misdiagnosed as other myopathies, such as polymyositis, and mistakenly treated with steroids. A rheumatology based practice survey is being designed to establish the incidence of Pompe disease and other myopathies in patients with atypical steroid-unresponsive presumed myopathies (ASUPM)
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