Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form

American Journal of Medical Genetics

Volumn 72, Issue 2, 1997, Pages 135-142

  Verloes, Alain ^a,c   Massin, Martial ^b   Lombet, Jacques ^b   Grattagliano, Bettina ^c   Soyeur, Daniel ^c   Rigo, Jacques ^b   Koulischer, Lucien ^a   Van Hoof, François ^d  

^a UNIVERSITY OF LIÈGE   (Belgium)

^b CHR La Citadelle ^*  (Belgium)

^c UNIVERSITY OF LIÈGE   (Belgium)

^d UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

Antopol disease; Cardiac phosphorylase b kinase deficiency; Glycogen storage disease type 2b glucosidase; Pompe disease; Pseudo Pompe disease

Indexed keywords

GLYCOGEN; PHOSPHORYLASE KINASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ENZYME DEFICIENCY; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN TISSUE; LYSOSOME STORAGE DISEASE; MALE; NEWBORN; PRIORITY JOURNAL; SYNDROME DELINEATION;

ALPHA-GLUCOSIDASES; GLUCAN 1,4-ALPHA-GLUCOSIDASE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; MALE; MICROSCOPY, ELECTRON; MYOCARDIUM; PEDIGREE;

CANIS;

EID: 0030881788     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971017)72:2<135::AID-AJMG3>3.0.CO;2-U     Document Type: Article

References (28)

1. Antopol W, Boas EP, Levinson W, Tuchmann LR (1940): Cardiac hypertrophy caused by glycogen storage disease in a fifteen year-old boy. Am Heart J 20:546-556.
2. Atkin J, Snow JW, Zellweger H, Rhead WJ (1984): Fatal infantile cardiac glycogenosis without acid maltase deficiency presenting as congenital hydrops. Eur J Pediatr 142:150.
3. Aubert-Tulkens G, Van Hoof F, Tulkens P (1979): Gentamicin induced lysosomal phospholipodosis in cultured rat fibroblasts. Lab Invest 40: 481-491.
4. Bergia B, Sybers HD, Butler IJ (1986): Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy. J Neurol Neurosurg Psychiatry 49:1423-1426.
5. Bru P, Pellissier JF, Gatau-Pélanchon J, Faugère G, de Barsy T, Levy S, Gérard R (1988): Glycogénose lysosomiale cardiomusculaire de l'adulte sans déficit enzymatique connu. Arch Mal Coeur 81:109-114.
6. Byrne E, Dennett X, Crotty B, Trounce I, Sands JM, Hawkins R, Hammond J, Anderson S, Haan EA, Pollard A (1986): Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels. Brain 109:523-536.
7. Danon JE, Oh SJ, Di Mauro S, Manaligod JR, Eastwood A, Sakkubai N, Schlisefeld LH (1981): Lysosomal glycogen storage disease with normal acid maltase. Neurology 31:51-57.
8. de Barsy T, Ferrière G, Fernandez-Alvarez E (1979): Uncommon case of type II glycogenosis. Acta Neuropathol (Berl) 47:245-247.
9. de Barsy T, Jacquemin P, Van Hoof F, Hers HG (1972): Rodent and human acid α-glucosidase. Purification, properties, and inhibition antibodies. Investigation in type II glycogenosis. Eur J Biochem 31:156-165.
10. Dworzak F, Casazza F, Mora CM, De Maria R, Gronda E, Baroldi G, Rimoldi M, Morandi L, Cornelio F (1994): Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant. Neuromusc Disorders 4:243-247.
11. Eishi Y, Takemura T, Sone R, Yamamura H, Narisawa K, Ichinohasama R, Tanaka M, Hatakeyama S (1985): Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: A new type of glycogen storage disease. Hum Pathol 16:193-197.
12. Elleder M, Shin YS, Zuntova A, Vojtovic P, Chalupecky V (1993): Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase. Virchows Arch [A] 423:303-307.
13. Hart ZH, Servidei S, Peterson PL, Chang CH, DiMauro S (1987): Cardiomyopathy, mental retardation and autophagic vacuolar myopathy. Neurology 37:1065-1068.
14. Hers HG (1963): Alpha-glucosidase deficiency in generalized glycogen storage disease. Biochem J 86:16-21.
15. Kornfeld S (1992): Structure and function of the mannose-6-phosphate/ insulin-like growth factor II receptors. Annu Rev Biochem 61:307-330.
16. Marles SL, Lacson AG, Greenberg CR, Haworth JC, Kutty KM (1991): Glycogenosis in neonates. Pediatr Res 29:A1157 (abstract).
17. Mehrizi A, Oppenheimer EH (1960): Heart failure associated with unusual deposition of glycogen in the myocardium. Bull Johns Hopkins Hosp 107:329-336.
18. Neufeld EF (1991): Lysosomal storage diseases. Annu Rev Biochem 60: 257-280.
19. Potter JL, Robinson HB Jr, Kramer JD, Schafer IA (1980): Apparent normal leucocyte acid maltase activity in glycogen storage disease type 2 (Pompe's disease). Clin Chem 26:1914-1915.
20. Pryer NK, Wuestenhube LJ, Schekman R (1992): Vesicle-mediated protein sorting. Annu Rev Biochem 59:331-353.
21. Rapoport TA (1990): Protein transport across the ER membranes. TIBS 15:355-358.
22. Riggs JE, Schochet SS, Gutman L, Shanske S, Neal WA, Di Mauro S (1983): Lysosomal glycogen storage disease without acid maltase deficiency. Neurology 33:873-877.
23. Sacrez A, Porte A, Batzenschlager A, de Barsy T, Wolff F, Grison D, Stoeckel L, Ferrière P (1979): Myocardiopathie familiale. Etude de deux familles avec biopsies myocardique et musculaire. Arch Mal Coeur 72:786-792.
24. Servidei S, Metlay LA, Chodosh J, DiMauro S (1988): Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. J Pediatr 113: 82-85.
25. Sokal EM, Van Hoof F, Alberti D, de Ville de Goyet J, de Barsy T, Otte JB (1992): Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis. Eur J Pediatr 151:200-203.
26. Tachi N, Tachi M, Sasaki K, Tomita H, Wakai S, Annaka S, Minami R, Tsurui S, Sugie H (1989): Glycogen storage disease with normal acid maltase in skeletal and cardiac muscles. Pediatr Neurol 5:60-63.
27. Triparthy D, Coleman RA, Vidaillet HJJ, Steenbergen C, Hirschhorn K, Packer DL (1988): Complete heart block with myocardial membrane-bound glycogen and normal peripheral alpha-glucosidase activity. Ann Intern Med 109:985-987.
28. Ullrich K, von Bassewitz D, Shin J, Korinthenberg R, Sewell S, von Figura K (1989): Lysosomal glycogen storage disease without deficiency of acid alpha-glucosidase. Prog Clin Biol Res 306:163-171.