Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/17392
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Type: Journal article
Title: Correlation of acid a-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease
Author: Umapathysivam, K.
Hopwood, J.
Meikle, P.
Citation: Clinica Chimica Acta, 2005; 361(1-2):191-198
Publisher: Elsevier Science BV
Issue Date: 2005
ISSN: 0009-8981
1873-3492
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 determine the lysosomal accumulation of glycogen in the same cells. These markers were assessed for their ability to predict age of onset. RESULTS: Acid alpha-glucosidase activity and specific activity as well as lysosomal glycogen showed significant correlations with age of onset, with acid alpha-glucosidase activity having the highest Spearman correlation coefficient (0.887, p<0.001). Lysosomal glycogen accumulated only in cells from infantile and juvenile patients but not from adult-onset patients. However, cells from adult-onset patients had relatively low cytoplasmic glycogen compared to control individuals and other forms of the disease. CONCLUSION: Acid-alpha-glucosidase activity and specific activity, and lysosomal glycogen content are useful predictors of age of onset in Pompe disease.
Keywords: Cell Line; Fibroblasts; Skin; Humans; Glycogen Storage Disease Type II; Acids; Glycogen; alpha-Glucosidases; Culture Media; Age of Onset
RMID: 0020051200
DOI: 10.1016/j.cccn.2005.05.025
Appears in Collections:Paediatrics publications

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