Abstract
A sixteen-year-old male patient with acid maltase deficiency is reported. The case is unusual because of the age of onset of the disease and the symptom of cardiac enlargement without muscular weakness, in contrast to the adult type IIb glycogenosis. The importance of recognizing the disease at all ages for genetic counselling is discussed.
Keywords: acid maltase deficiency, glycogen storage disease type IIb, glycogenosis
Copyright and license
Copyright © 1982 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
