Open AccessBranching Enzyme Deficiency
Author(s) -
Carmen Paradas,
Hasan O. Akman,
Carolina Ionete,
Heather Lau,
Peter Riskind,
David Jones,
Thomas W. Smith,
Michio Hirano,
Salvatore DiMauro
Publication year - 2013
Publication title -
jama neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.298
H-Index - 231
eISSN - 2168-6157
pISSN - 2168-6149
DOI - 10.1001/jamaneurol.2013.4888
Subject(s) - branching (polymer chemistry) , enzyme , biochemistry , biology , chemistry , organic chemistry
The neuromuscular presentation of glycogen branching enzyme deficiency includes a severe infantile form and a late-onset variant known as adult polyglucosan body disease. Herein, we describe 2 patients with adult acute onset of fluctuating neurological signs and brain magnetic resonance imaging lesions simulating multiple sclerosis. A better definition of this new clinical entity is needed to facilitate diagnosis.
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