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Late Infantile Acid Maltase Deficiency

Late Infantile Acid Maltase Deficiency Abstract CLASSICAL type II glycogenosis is a hereditary generalized glycogen storage disease,1-3 appearing in the first few months of life. The disease is characterized by profound weakness, hypotonia, and cardiomegaly followed by failure to thrive, progressive cardiorespiratory failure, and death. Glycogen is deposited in numerous tissues including brain and spinal cord. Most patients die within the first year of life. In 1963, Hers4 described the absence of α-1, 4-glucosidase, (acid maltase) in tissues of infants with type II glycogenosis. Recently, deficiencies of acid maltase have been found in individuals with clinical manifestations different from infants with classical type II glycogenosis. There have been reports of five children with acid maltase deficiency and progressive weakness but no cardiac or visceral symptoms, surviving beyond infancy.5-8 This communication describes a patient with acid maltase deficiency whose only symptoms were due to a moderately severe myopathy at age 4 years.9 References 1. Stanbury, J.B.; Wyngaarden, J.B.; and Fredrickson, D.S.: The Metabolic Basis of Inherited Disease , ed 2, New York: McGraw-Hill, 1966, p 165. 2. Di Sant Agnese, P.A.; Andersen, D.H.; and Mason, H.H.: Glycogen Storage Disease of the Heart: II. Critical Review , Pediatrics 6:607-624 ( (Oct) ) 1950. 3. Di Sant Agnese, P.A.: Diseases of Glycogen Storage With Special Reference to the Cardiac Type of Generalized Glycogenosis , Ann NY Acad Sci 72:439-450 ( (Feb 6) ) 1959.Crossref 4. Hers, H.G.: α-Glucosidase Deficiency in Generalized Glycogen-Storage Disease (Pompe's Disease) , Biochem J 86:11-16 ( (No. 1) ) 1963. 5. Courtecuisse, V., et al: Glycogenose musculaire par deficit d'α-1, 4-glucosidase simulant une dystrophie musculaire progressive , Arch Franc Pediat 22:1153-1164 ( (No. 10) ) 1965. 6. Zellweger, H., et al: A Mild Form of Muscular Glycogenosis in Two Brothers With α-1, 4-Glucosidase Deficiency , Ann Pediat 205:413-437 ( (No. 6) ) 1965. 7. Smith, H.; Amick, L.D.; and Sidbury, J.: Type II Glycogenosis , Amer J Dis Child 111:475-481 ( (May) ) 1966.Crossref 8. Smith, J.; Zellweger, H.; and Afifi, A.K.: Muscular Form of Glycogenosis Type II (Pompe): Report of a Case With Unusual Features , Neurology 17:537-549 ( (June) ) 1967.Crossref 9. Swaiman, K.F.; Kennedy, W.R.; and Sauls, H.S.: Late Infantile Acid Maltase Deficiency, abstracted , Neurology 17:308-309 ( (March) ) 1967. 10. Hers, H.G.: Glycogen Storage Disease , in Advances in Metabolic Disorders , New York: Academic Press, Inc., 1964, vol I, p 37-38. 11. Lamer, J., and Villar-Palasi, C.: Enzymes in a Glycogen Storage Myopathy , Proc Nat Acad Sci45:1234-1235 ( (Aug 15) ) 1959. 12. Barker, S.B.: Lactic Acid , in Standard Methods of Clinical Chemistry , New York: Academic Press, Inc., 1961, p 167. 13. Tanzer, M.L., and Gilvarg, C.: Creatine and Creatine Kinase Measurement , J Biol Chem 234:3201-3204 ( (Dec) ) 1959. 14. Fleisher, G.A.: Aldolase , in Standard Methods of Clinical Chemistry , New York: Academic Press, Inc., 1961, p 14. 15. McArdle, B.: Myopathy Due to a Defect in Muscle Glycogen Breakdown , Clin Science 10:13-33 ( (No. 1) ) 1951. 16. Gutman, L.; Hogan, G.; and Schmidt, R.: Electromyography and Histology of Pompe's Disease , Bull A Ass EMG Electrodiag 14:13, 1967. 17. Lejeune, N.; Thines-Sempoux, D.; and Hers, H.F.: Tissue Fractionation Studies: 16. Intracellular Distribution and Properties of α-Glucosidases in Rat Liver , Biochem J 86:16-21 ( (No. 1) ) 1963. 18. Weissman, G.: Lysosomes , New Eng J Med 273:1084-1090 ( (Nov 11) ) 1966.Crossref 19. Fell, H.B., and Thomas, L.: Comparison of Effects of Papain and Vitamin A on Cartilage: II. Vital Effects on Organ Cultures of Embryonic Skeletal Tissue , J Exp Med 111:719-743 ( (May) ) 1960.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1968 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1968.00470360064006
Publisher site
See Article on Publisher Site

Abstract

Abstract CLASSICAL type II glycogenosis is a hereditary generalized glycogen storage disease,1-3 appearing in the first few months of life. The disease is characterized by profound weakness, hypotonia, and cardiomegaly followed by failure to thrive, progressive cardiorespiratory failure, and death. Glycogen is deposited in numerous tissues including brain and spinal cord. Most patients die within the first year of life. In 1963, Hers4 described the absence of α-1, 4-glucosidase, (acid maltase) in tissues of infants with type II glycogenosis. Recently, deficiencies of acid maltase have been found in individuals with clinical manifestations different from infants with classical type II glycogenosis. There have been reports of five children with acid maltase deficiency and progressive weakness but no cardiac or visceral symptoms, surviving beyond infancy.5-8 This communication describes a patient with acid maltase deficiency whose only symptoms were due to a moderately severe myopathy at age 4 years.9 References 1. Stanbury, J.B.; Wyngaarden, J.B.; and Fredrickson, D.S.: The Metabolic Basis of Inherited Disease , ed 2, New York: McGraw-Hill, 1966, p 165. 2. Di Sant Agnese, P.A.; Andersen, D.H.; and Mason, H.H.: Glycogen Storage Disease of the Heart: II. Critical Review , Pediatrics 6:607-624 ( (Oct) ) 1950. 3. Di Sant Agnese, P.A.: Diseases of Glycogen Storage With Special Reference to the Cardiac Type of Generalized Glycogenosis , Ann NY Acad Sci 72:439-450 ( (Feb 6) ) 1959.Crossref 4. Hers, H.G.: α-Glucosidase Deficiency in Generalized Glycogen-Storage Disease (Pompe's Disease) , Biochem J 86:11-16 ( (No. 1) ) 1963. 5. Courtecuisse, V., et al: Glycogenose musculaire par deficit d'α-1, 4-glucosidase simulant une dystrophie musculaire progressive , Arch Franc Pediat 22:1153-1164 ( (No. 10) ) 1965. 6. Zellweger, H., et al: A Mild Form of Muscular Glycogenosis in Two Brothers With α-1, 4-Glucosidase Deficiency , Ann Pediat 205:413-437 ( (No. 6) ) 1965. 7. Smith, H.; Amick, L.D.; and Sidbury, J.: Type II Glycogenosis , Amer J Dis Child 111:475-481 ( (May) ) 1966.Crossref 8. Smith, J.; Zellweger, H.; and Afifi, A.K.: Muscular Form of Glycogenosis Type II (Pompe): Report of a Case With Unusual Features , Neurology 17:537-549 ( (June) ) 1967.Crossref 9. Swaiman, K.F.; Kennedy, W.R.; and Sauls, H.S.: Late Infantile Acid Maltase Deficiency, abstracted , Neurology 17:308-309 ( (March) ) 1967. 10. Hers, H.G.: Glycogen Storage Disease , in Advances in Metabolic Disorders , New York: Academic Press, Inc., 1964, vol I, p 37-38. 11. Lamer, J., and Villar-Palasi, C.: Enzymes in a Glycogen Storage Myopathy , Proc Nat Acad Sci45:1234-1235 ( (Aug 15) ) 1959. 12. Barker, S.B.: Lactic Acid , in Standard Methods of Clinical Chemistry , New York: Academic Press, Inc., 1961, p 167. 13. Tanzer, M.L., and Gilvarg, C.: Creatine and Creatine Kinase Measurement , J Biol Chem 234:3201-3204 ( (Dec) ) 1959. 14. Fleisher, G.A.: Aldolase , in Standard Methods of Clinical Chemistry , New York: Academic Press, Inc., 1961, p 14. 15. McArdle, B.: Myopathy Due to a Defect in Muscle Glycogen Breakdown , Clin Science 10:13-33 ( (No. 1) ) 1951. 16. Gutman, L.; Hogan, G.; and Schmidt, R.: Electromyography and Histology of Pompe's Disease , Bull A Ass EMG Electrodiag 14:13, 1967. 17. Lejeune, N.; Thines-Sempoux, D.; and Hers, H.F.: Tissue Fractionation Studies: 16. Intracellular Distribution and Properties of α-Glucosidases in Rat Liver , Biochem J 86:16-21 ( (No. 1) ) 1963. 18. Weissman, G.: Lysosomes , New Eng J Med 273:1084-1090 ( (Nov 11) ) 1966.Crossref 19. Fell, H.B., and Thomas, L.: Comparison of Effects of Papain and Vitamin A on Cartilage: II. Vital Effects on Organ Cultures of Embryonic Skeletal Tissue , J Exp Med 111:719-743 ( (May) ) 1960.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Jun 1, 1968

References