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Genotype-phenotype correlation in adult-onset acid maltase deficiency

✍ Scribed by Dr John H. J. Wokke; Margreet G. E. M. Ausems; Marie-José H. van den Boogaard; Elly F. Ippel; Otto van Diggelen; Marian A. Kroos; Marijke Boer; Frans G. I. Jennekens; Arnold J. J. Reuser; Hans Kristian Ploos van Amstel

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
508 KB
Volume
38
Category
Article
ISSN
0364-5134

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✦ Synopsis

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 alkele; 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 probanid, 9%). Deterioration of handicap was related to age, arid decrease in vital capacity to duration of the symptomatic stage. Respiratory insufficiency was never the firlit manifestation. The levels of activity of serum creatine kinase and of a- glucosidase in peripheral blood cells or muscle were helpful for the diagnosis, but did not have prognostic value. The adult form of acid nnaltase deficiency appears to be both clinically and genetically rather homogeneous; decrease of a-glucosidase activity is the final common pathway leading to destruction of muscle fibers and progression of muscle weakness over a period of years.

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