Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Childhood Acid Maltase Deficiency: A Clinical, Biochemical, and Morphologic Study of Three Patients

Childhood Acid Maltase Deficiency: A Clinical, Biochemical, and Morphologic Study of Three Patients Abstract • Three children, including two siblings and a patient with sporadic glycogenosis type II (childhood form of acid maltase deficiency [AMD]), were studied clinically, biochemically, and morphologically. In addition to a delay in developmental milestones and mild generalized muscle weakness, nasal vocalization and an electromyographic finding of abnormal insertion voltage, followed by pseudomyotonic discharge, were assumed to be characteristic diagnostic findings for the childhood form of AMD. Since the neutral maltase activity was highest in the muscle biopsy specimen from the patient with the least severe weakness, the enzyme may play a role in reducing muscle involvement. Selective type 2A fiber atrophy and type 2B fiber deficiency in the affected muscles were the common histochemical findings in this particular form of AMD. References 1. Matsuishi T, Terasawa K, Yoshida I, et al: Vacuolar myopathy with type 2A fiber atrophy and type 2B fiber deficiency: A case of childhood form acid α-1,4-glucosidase deficiency . Neuro-pediatrics 1982;13:173-176. 2. Salafsky IS, Nadler HL: A fluorometric assay of alpha glucosidase and its application in the study of Pompe's disease . J Lab Clin Med 1974; 81:450-454. 3. Hers HG: α-Glucosidase deficiency in generalized glycogen storage disease (Pompe's disease) . Biochem J 1963;86:11-16. 4. Saiter S, Dayton S, Novic B: The estimation of glycogen with the anthrone reagent . Arch Biochem Biophys 1950;25:191-200. 5. Engel AG: Metabolic and endocrine myopathies , in Walton JN (ed): Disorders of Voluntary Muscle , ed 4. New York, Churchill Livingstone, 1981, pp 671-674. 6. Engel AG: Acid maltase deficiency in adults: Studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies . Brain 1970;93:599-616.Crossref 7. Hudgson P, Gardner-Medwin D, Worsfold M: Adult myopathy from glycogen storage disease due to acid maltase deficiency . Brain 1968; 91:435-462.Crossref 8. Schlenska GK, Heene R, Spalke G: The symptomatology, morphology and biochemistry of glycogenosis type 2 (Pompe) in the adult . J Neurol 1976;212:237-252.Crossref 9. Roth JC, Williams HE: The muscular variant of Pompe's disease . J Pediatr 1967;71:567-573.Crossref 10. Smith HL, Amic LD, Sibury JBS: Type 2 glycogenosis . Am J Dis Child 1966;111:475-481.Crossref 11. Smith J, Zellweger H, Afifi AK: Muscular form of glycogenosis type 2 (Pompe) . Neurology 1967;17:537-549.Crossref 12. Swaiman KF, Kennedy WR, Sauls HS: Late infantile acid maltase deficiency . Arch Neurol 1968;18:642-648.Crossref 13. Zellweger GH, Brown BI, McCormic WF: A mild form of muscular glycogenosis in two brothers with alpha-1,4-glucosidase deficiency . Ann Pediatr 1965;205:413-437. 14. Austin J, Sakai M: Disorders of glycogen and related macromolecules in the nervous system , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology . Amsterdam, North Holland Pub Co, 1976, vol 27, pp 195-199. 15. Mancall EL, Aponte GE, Berry RG: Pompe's disease (diffuse glycogenosis) with neuronal storage . J Neuropathol Exp Neurol 1965; 24:85-96.Crossref 16. Gambetti P, Dimauro S, Baker L: Nervous system in Pompe's disease: Ultrastructure and biochemistry . J Neuropathol Exp Neurol 1971; 30:412-430.Crossref 17. Crome I, Cumings JN, Duckett S: Neuro-pathological and neurochemical aspects of generalized glycogen storage disease . J Neurol Neurosurg Psychiatry 1963;26:422-430.Crossref 18. Hug G, Schubert WK: Glycogenosis type 2: Glycogen distribution in tissues . Arch Pathol Lab Med 1967;84:141-152. 19. Angelini C, Engel AG: Comparative study of acid maltase deficiency: Biochemical differences betweeen infantile, childhood, and adult types . Arch Neurol 1972;26:344-349.Crossref 20. Horoupian DS, Kini KR, Weiss L, et al: Selective vacuolar myopathy with atrophy of type II fibers: Occurrence in a childhood case of acid maltase deficiency . Arch Neurol 1978;35:175-178.Crossref 21. Dubowitz V, Brooke MH: Muscle Biopsy: A Modern Approach . Philadelphia, WB Saunders Co, 1978. 22. Brooke MH, Kaiser KK: Muscle fiber types: How many and what kind? Arch Neurol 1970; 23:369-379.Crossref 23. Brooke MH, Williamson E, Kaiser KK: The behavior of four fiber types in developing and reinnervated muscle . Arch Neurol 1971;25:360-366.Crossref 24. Dubowitz V, Brooke MH: Muscle Disorders in Childhood . Philadelphia, WB Saunders Co, 1978. 25. Nonaka I, Une Y, Matsuishi T: The significance of type 2C fibers in biopsied muscles in various infantile neuromuscular disorders . Brain Dev 1979;10:439-445. 26. Engel AG, Dale AJD: Autophagic glycogenosis of late onset with mitochondrial abnormalities: Light and electron microscopic observations . Mayo Clin Proc 1968;43:233-279. 27. Martin JJ, deBarsy T, de Schrijver F, et al: Acid maltase deficiency (Type 2 glycogenosis): Morphological and biochemical study of a childhood phenotype . J Neurol Sci 1976;30:155-166.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Childhood Acid Maltase Deficiency: A Clinical, Biochemical, and Morphologic Study of Three Patients

Loading next page...
 
/lp/american-medical-association/childhood-acid-maltase-deficiency-a-clinical-biochemical-and-NxO14abDcE
Publisher
American Medical Association
Copyright
Copyright © 1984 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1984.04050130053022
Publisher site
See Article on Publisher Site

Abstract

Abstract • Three children, including two siblings and a patient with sporadic glycogenosis type II (childhood form of acid maltase deficiency [AMD]), were studied clinically, biochemically, and morphologically. In addition to a delay in developmental milestones and mild generalized muscle weakness, nasal vocalization and an electromyographic finding of abnormal insertion voltage, followed by pseudomyotonic discharge, were assumed to be characteristic diagnostic findings for the childhood form of AMD. Since the neutral maltase activity was highest in the muscle biopsy specimen from the patient with the least severe weakness, the enzyme may play a role in reducing muscle involvement. Selective type 2A fiber atrophy and type 2B fiber deficiency in the affected muscles were the common histochemical findings in this particular form of AMD. References 1. Matsuishi T, Terasawa K, Yoshida I, et al: Vacuolar myopathy with type 2A fiber atrophy and type 2B fiber deficiency: A case of childhood form acid α-1,4-glucosidase deficiency . Neuro-pediatrics 1982;13:173-176. 2. Salafsky IS, Nadler HL: A fluorometric assay of alpha glucosidase and its application in the study of Pompe's disease . J Lab Clin Med 1974; 81:450-454. 3. Hers HG: α-Glucosidase deficiency in generalized glycogen storage disease (Pompe's disease) . Biochem J 1963;86:11-16. 4. Saiter S, Dayton S, Novic B: The estimation of glycogen with the anthrone reagent . Arch Biochem Biophys 1950;25:191-200. 5. Engel AG: Metabolic and endocrine myopathies , in Walton JN (ed): Disorders of Voluntary Muscle , ed 4. New York, Churchill Livingstone, 1981, pp 671-674. 6. Engel AG: Acid maltase deficiency in adults: Studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies . Brain 1970;93:599-616.Crossref 7. Hudgson P, Gardner-Medwin D, Worsfold M: Adult myopathy from glycogen storage disease due to acid maltase deficiency . Brain 1968; 91:435-462.Crossref 8. Schlenska GK, Heene R, Spalke G: The symptomatology, morphology and biochemistry of glycogenosis type 2 (Pompe) in the adult . J Neurol 1976;212:237-252.Crossref 9. Roth JC, Williams HE: The muscular variant of Pompe's disease . J Pediatr 1967;71:567-573.Crossref 10. Smith HL, Amic LD, Sibury JBS: Type 2 glycogenosis . Am J Dis Child 1966;111:475-481.Crossref 11. Smith J, Zellweger H, Afifi AK: Muscular form of glycogenosis type 2 (Pompe) . Neurology 1967;17:537-549.Crossref 12. Swaiman KF, Kennedy WR, Sauls HS: Late infantile acid maltase deficiency . Arch Neurol 1968;18:642-648.Crossref 13. Zellweger GH, Brown BI, McCormic WF: A mild form of muscular glycogenosis in two brothers with alpha-1,4-glucosidase deficiency . Ann Pediatr 1965;205:413-437. 14. Austin J, Sakai M: Disorders of glycogen and related macromolecules in the nervous system , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology . Amsterdam, North Holland Pub Co, 1976, vol 27, pp 195-199. 15. Mancall EL, Aponte GE, Berry RG: Pompe's disease (diffuse glycogenosis) with neuronal storage . J Neuropathol Exp Neurol 1965; 24:85-96.Crossref 16. Gambetti P, Dimauro S, Baker L: Nervous system in Pompe's disease: Ultrastructure and biochemistry . J Neuropathol Exp Neurol 1971; 30:412-430.Crossref 17. Crome I, Cumings JN, Duckett S: Neuro-pathological and neurochemical aspects of generalized glycogen storage disease . J Neurol Neurosurg Psychiatry 1963;26:422-430.Crossref 18. Hug G, Schubert WK: Glycogenosis type 2: Glycogen distribution in tissues . Arch Pathol Lab Med 1967;84:141-152. 19. Angelini C, Engel AG: Comparative study of acid maltase deficiency: Biochemical differences betweeen infantile, childhood, and adult types . Arch Neurol 1972;26:344-349.Crossref 20. Horoupian DS, Kini KR, Weiss L, et al: Selective vacuolar myopathy with atrophy of type II fibers: Occurrence in a childhood case of acid maltase deficiency . Arch Neurol 1978;35:175-178.Crossref 21. Dubowitz V, Brooke MH: Muscle Biopsy: A Modern Approach . Philadelphia, WB Saunders Co, 1978. 22. Brooke MH, Kaiser KK: Muscle fiber types: How many and what kind? Arch Neurol 1970; 23:369-379.Crossref 23. Brooke MH, Williamson E, Kaiser KK: The behavior of four fiber types in developing and reinnervated muscle . Arch Neurol 1971;25:360-366.Crossref 24. Dubowitz V, Brooke MH: Muscle Disorders in Childhood . Philadelphia, WB Saunders Co, 1978. 25. Nonaka I, Une Y, Matsuishi T: The significance of type 2C fibers in biopsied muscles in various infantile neuromuscular disorders . Brain Dev 1979;10:439-445. 26. Engel AG, Dale AJD: Autophagic glycogenosis of late onset with mitochondrial abnormalities: Light and electron microscopic observations . Mayo Clin Proc 1968;43:233-279. 27. Martin JJ, deBarsy T, de Schrijver F, et al: Acid maltase deficiency (Type 2 glycogenosis): Morphological and biochemical study of a childhood phenotype . J Neurol Sci 1976;30:155-166.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Jan 1, 1984

References