1995
Genotype-phenotype correlation in adult-onset acid maltase deficiency
Publication
Publication
Annals of Neurology , Volume 38 - Issue 3 p. 450- 454
We performed a clinical, biochemical, and genetic study in 16 patients from 11 families with adult‐onset acid maltase deficiency. All patients were compound heterozygotes and carried the IVS1(– 13T→G) transversion on one allele; the second allele harbored either a deletion of a T at position 525 in exon 2 (7 probands, 64%) or a deletion of exon 18 (1 proband, 9%). Detrioration of handicap was related to age, and decrease in vital capacity to duration of the symptomatic stage. Respiratory insufficiency was never the first manifestation. The levels of activity of serum creatine kinase and of β‐glucosidase in peripheral blood cells or muscle were helpful for the diagnosis, but did not have prognostic value. The adult form of acid maltase deficiency appears to be both clinically and genetically rather homogeneous; decrease of β‐glucosidase activity is the final common pathway leading to destruction of muscle fibers and progression of muscle weakness over a period of years. Copyright
Additional Metadata | |
---|---|
doi.org/10.1002/ana.410380316, hdl.handle.net/1765/57795 | |
Annals of Neurology | |
Organisation | Department of Clinical Genetics |
Wokke, J., Ausems, M., van den Boogaard, M.-J. H., Ippel, E. F., van Diggelen, O., Kroos, M., … van Amstel, H. K. P. (1995). Genotype-phenotype correlation in adult-onset acid maltase deficiency. Annals of Neurology, 38(3), 450–454. doi:10.1002/ana.410380316 |