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Genotype‐phenotype correlation in adult‐onset acid maltase deficiency
Author(s) -
Wokke John H. J.,
Ausems Margreet G. E. M.,
van den Boogaard MarieJosé H.,
Ippel Elly F.,
van Diggelen Otto,
Kroos Marian A.,
Boer Marijke,
Jennekens Frans G. I.,
Reuser Arnold J. J.,
van Amstel Hans Kristian Ploos
Publication year - 1995
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410380316
Subject(s) - proband , endocrinology , medicine , glycogen storage disease type ii , exon , compound heterozygosity , biology , genotype , allele , creatine kinase , genetics , mutation , gene , enzyme replacement therapy , disease
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.