PEDIATRICS Vol. 12 No. 2 August 1953, pp. 165-177
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STUDIES IN DISORDERS OF MUSCLE

IX. Glycogen Storage Disease Primarily Affecting Skeletal Muscle and Clinically Resembling Amyotonia Congenita

W. KRIVIT M.D.1, W. J. POLGLASE PH.D.2, F. D. GUNN M.D.3, and FRANK H. TYLER M.D.4

1 The Department of Medicine, University of Utah College of Medicine, Salt Lake City.
2 The Department of Biochemistry, University of Utah College of Medicine, Salt Lake City.
3 The Department of Pediatrics, University of Utah College of Medicine, Salt Lake City.
4 The Department of Pathology, University of Utah College of Medicine, Salt Lake City.

Three infants (siblings) with flaccid weakness of skeletal muscle are described with postmortem findings in two. Clinically, the disease simulated amyotonia congenita (Oppenheim's disease), but the anatomic disorder in these infants consisted of excess glycogen storage producing its main effect in striated muscle.

Muscle biopsy is essential in the differential diagnosis of the muscular atrophies of infancy.

This disorder has many similarities to the cardiomegalic type of glycogen storage disease and may be contrasted with the more common hepatomegalic (von Gierke's) type.

Glycogen isolated from the tissues of one of these patients showed excess branching and decreased average chain length. There was an excess of a low molecular weight component in the skeletal muscle.

Submitted on November 28, 1952




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