Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ
Molecular genetics and metabolism, 2012 Nov
Abstract
Most adults with Pompe disease are compound heterozygotes in which one acid α-glucosidase (GAA) allele harbors the c.-32-13T>G mutation, causing partial loss of GAA, and the other allele harbors a fully deleterious mutation. The fibroblast GAA activity in these patients is usually between 5% and 25% of the average in healthy individuals. In some adult patients, however, the fibroblast GAA activity is much lower and is in the range that is normally observed in classic-infantile Pompe disease. We investigated the genotype-phenotype correlation in three such adult patients and measured the GAA activity as well as the glycogen content in muscle and fibroblasts in order to better understand the clinical course.