Type III Glycogenosis
- 1 August 1971
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 25 (2), 171-178
- https://doi.org/10.1001/archneur.1971.00490020089011
Abstract
A 43-year-old man with an eight-month history of muscular weakness and wasting was found to have an abnormal electromyographic study with muscle biopsy demonstrating glycogen storage. Laboratory studies revealed a diabetic glucose tolerance curve and elevated serum glutamic oxaloacetic transaminase, creatine phosphokinase, lactic dehydrogenase activities. Galactose and glycerol tolerance was normal, while epinephrine and glucagon failed to elevate blood glucose. No elevation of blood lactic acid followed ischemic exercise. Muscle enzyme assay demonstrated the absence of amylo-1, 6-glucosidase activity, and electron microscopic studies revealed subsarcolemmal and intrasarcoplasmic accumulations of glycogen. The clinical, electromyographic, laboratory, and morphologic findings in our patient are compared with previous reports of type III glycogenosis and with other glycogenoses characterized by muscle storage. Among patients with type III glycogenosis three have been mentioned, but not fully reported, with similar weakness and wasting.Keywords
This publication has 9 references indexed in Scilit:
- ACID MALTASE DEFICIENCY IN ADULTS: STUDIES IN FOUR CASES OF A SYNDROME WHICH MAY MIMIC MUSCULAR DYSTROPHY OR OTHER MYOPATHIESBrain, 1970
- Muscle Phosphofructokinase DeficiencyArchives of Neurology, 1967
- The Subgroups of Type III GlycogenosisEuropean Journal of Biochemistry, 1967
- The Determination of Amylo-1,6-GlucosidaseEuropean Journal of Biochemistry, 1967
- Amylo-1,6-Glucosidase Activity and Glycogen Content of the Erythrocytes of Normal Subjects, Patients with Glycogen Storage Disease and HeterozygotesEuropean Journal of Biochemistry, 1967
- An electromyographic diagnostic screening test in McArdle's disease and a case reportNeurology, 1967
- McArdle's Syndrome with Previously Unreported Electrocardiographic and Serum Enzyme AbnormalitiesAnnals of Internal Medicine, 1965
- Skeletal muscle glycogenosis: an investigation of two dissimilar casesJournal of Neurology, Neurosurgery & Psychiatry, 1963
- Late-Onset Type of Skeletal-Muscle Phosphorylase DeficiencyNew England Journal of Medicine, 1963