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Novel missense mutations in the glycogen‐branching enzyme gene in adult polyglucosan body disease
Author(s) -
Ziemssen Focke,
Sindern Eckhart,
Schröder J. Michael,
Shin Yoon S.,
Zange Jahen,
Kilimann Manfred W.,
Malin JeanPierre,
Vorgerd Matthias
Publication year - 2000
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 - 10.1002/1531-8249(200004)47:4<536::aid-ana22>3.0.co;2-k
Subject(s) - missense mutation , gene , glycogen branching enzyme , genetics , glycogen storage disease , enzyme , biology , glycogen synthase , mutation , glycogen , endocrinology , biochemistry
We describe the first non‐Ashkenazi patient with adult polyglucosan body disease and decreased glycogen‐branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair GBE activity. This is the first identification of GBE mutations underlying adult polyglucosan body disease in a non‐Ashkenazi family, and confirms that adult glycogen storage disease type IV can manifest clinically as adult polyglucosan body disease. Ann Neurol 2000;47:536–540.