Journal article

Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease

K Umapathysivam, JJ Hopwood, PJ Meikle

Clinica Chimica Acta | ELSEVIER SCIENCE BV | Published : 2005

Abstract

BACKGROUND: Pompe disease is an autosomal recessive disorder of glycogen metabolism resulting from a deficiency of acid alpha-glucosidase. Pompe disease can present within a broad clinical spectrum, from the severe infantile to the attenuated adult onset phenotypes. Early diagnosis, in the form of newborn screening has been proposed. However, in the absence of clinical symptoms, prediction of disease severity and progression will be critical to provide appropriate management and treatment of affected individuals. METHODS: We have used sensitive immune-assays to measure levels of acid alpha-glucosidase protein and activity in cultured skin fibroblasts and a new glycogen assay to specifically ..

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University of Melbourne Researchers