Historical highlights and unsolved problems in glycogen storage disease type 1

European Journal of Pediatrics, Supplement

Volumn 161, Issue 1, 2002, Pages

  Moses, Shimon W ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

Complications; Glycogen storage disease type 1; Subtypes; Treatment

Indexed keywords

ADENOVIRUS VECTOR; GLUCOSE; GLUCOSE 6 PHOSPHATASE; GLUCOSE 6 PHOSPHATE; PHOSPHATE; RECOMBINANT ENZYME; STARCH;

CALCIUM METABOLISM; CHROMOSOME 11Q; CHROMOSOME 17Q; CONFERENCE PAPER; DIET THERAPY; DOG; ENTERITIS; ENZYME LOCALIZATION; G6PT GENE; GENE; GENE MAPPING; GENE MUTATION; GENE THERAPY; GENE TRANSFER; GLUCOSE HOMEOSTASIS; GLYCOGEN STORAGE DISEASE TYPE 1; GROWTH RETARDATION; HUMAN; HYDROLYSIS; HYPERLIPIDEMIA; KIDNEY DISEASE; KIDNEY FAILURE; KNOCKOUT MOUSE; LIVER ADENOMA; LIVER CELL CARCINOMA; MICROSOME MEMBRANE; OSTEOPENIA; PHOSPHORYLATION; PORTOCAVAL SHUNT; PRIORITY JOURNAL; SURGICAL TECHNIQUE;

EID: 0036392425     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf02679988     Document Type: Conference Paper

References (79)

1. Alaupoviv P, Fernandes J (1985) The serum apoliporotein profiles of patients with glucose-6-phosphatase deficiency. Pediatr Res 19: 380-384
2. Alshak NS, Cocjin J, Podesta L, van de Velde R, Makowka L, Rosenthal P, Geller SA (1994) hepatocellular adenoma in glycogen storage disease type IV. Arch Pathol Lab Med 118: 88-91
3. Ament ME, Ochs MD (1973) Gastrointestinal manifestations of chronic granulomatous disease. N Engl J Med 288: 382-387
4. Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T et al (1998) The gene for glycogen storage disease type 1b maps to chromosome 11q23. Am J Hum Genet 62: 400-405
5. Arion WJ, Lange AJ, Walls HE, Ballas LM (1980) Evidence for the participation of independent translocases for phosphate and glucose-6-phosphate in the microsomal glucose-6-phosphatase system. J Biol Chem 255: 10396-10406
6. Banhegyi G, Marcolongo P, Fulceri R, Hinds C, Burchell A, Benedetti A (1997) demonstration of metabolically active glucose-6-phosphate pool in the lumen of liver microsome vesicles. J Biol Chem 272: 13584-135490
7. Bashan N, Potashnik R, Peist A, Peleg N, Moran A, Moses SW (1993) Deficient glucose phosphorylation as a common denominator and its relation to abnormal leucocyte function in glycogen storage disease type 1b patients. Eur J Pediatr 152[Suppl 1]: S44-S48
8. Beaty RM, Jackson M, Kishnani PS, Faulkner E, Van Camp S et al (2000) Gene therapy with adenoassociated virus (AVV) vectors in canine glycogen storage disease type 1a. Am J Hum Genet 67[Suppl 2]: 432
9. Beaudet AL, Anderson DC, Michels VV, Arion WJ, Lange AJ (1980) Neutropenia and impaired neutrophil migration in type 1b glycoegn storage disease. J Pediatr 97: 906-910
10. Bianchi L (1993) Glycogen storage disease 1 and hepatocellular tumours. Eur J Pediatr 152[Suppl 1]: S63-S70
11. Burchell A (1998) A reevaluation of GLUT 7. Biochem J 331: 973
12. Burchell A, Waddell I (1991) The molecular basis of the hepatic microsomal glucose-6-phosphatase system. Biochim Biophys Acta 1092: 129-137
13. Burchell A, Waddell I, Zomerschoe AG, Voice MW (1992) Cloning and expression of hepatic microsomal glucose transport protein. Comparison with liver plasma glucose transport protein GLUT 2. Biochem J 286: 173-177
14. Chen YT (1991) Type 1 glycogen storage disease: kidney involvement, pathogenesis and treatment. Pediatr Nephrol 5: 71-76
15. Chen YT, Cornblath M, Sidbury JB (1984) Cornstarch therapy in type 1 glycogen storage disease. N Engl J med 310: 171-175
16. Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB (1988) Renal disease in type 1 glycogen storage disease. N Engl J Med 318: 7-11
17. Chen YT, Bazarre C, Lee MM, Sidbury JB, Coleman RA (1993) Type 1 glycogen storage disease: nine years of management with cornstarch. Eur J Pediatr 152[Suppl 1]: S56-S59
18. Cori GT, Cori CF (1952) Glucose-6-phosphatase in the liver in glycogen storage disease. J Biol Chem 199: 661-667
19. Emmett M, Narias RG (1978) Renal transplantation in type 1 glycogenosis: failure to improve glucose metabolism. JAMA 239: 1642-1644
20. Fata F, Myers P, Addeo J, Grimberg M, Nawabi I, Cappel MS (1997) Cyclic neutropenia in Crohn's ileocolitis: efficacy of granulocyte colony-stimulating factor. J Clin Gastroenterol 24: 253-256
21. Fernandes J (1974) The effect of disaccharides on the hyperlacticacidaemia of glucose-6-phosphatase deficient children. Acta Paediatr Scand 63: 695-698
22. Gerin I, Veiga-da-Cunha M, Achoury Y, Collet JF, Van Schaftingen E (1997) Sequence of a putative glucose-6-phosphate translocase mutated in glycogen storage disease type 1b. FEBS Lett 419: 235-238
23. Gitzelmann R, Bosshard NU (1993) Defective neutrophil and monocyte functions in glycogen storage disease type 1b: a literature review. Eur J Pediatr 152[Suppl 1]: S33-S38
24. Goans RE, Weiss GH, Viera NE, Sidbury JB, Abrams SA, Yergey AL (1996) Calcium kinetics in glycogen storage disease type 1a. Calcif Tissue Int 59: 449-453
25. Green H, Slonim AE, Burr IM, Moran JR (1976) Continuous nocturnal intragastric feeding for the management of type 1 glycogen storage disease. N Engl J med 294: 423-425
26. Guillam MT, Burcelin R, Thorens B (1998) Normal hepatic glucose production in the absence of GLUT 2 reveals an alternative pathway for glucose release from hepatocytes. proc Natl Acad Sci U S A 95: 12317-12321
27. Havel RJ, Balasse EO, Williams HE, Kane JP, Segel N (1969) Splanchnic metabolism in Von Gierke's disease (glycogenosis type 1). Trans Assoc Am Phys 82: 305-323
28. Hers HG, Van Hoof F, De Barsy T (1989) Glycogen storage disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 425-452
29. Hiraiwa H, Pan CJ, Baochuan L, Moses SW, Chou YC (1999) Inactivation of the glucose-6-phosphate transporter causes glycogen storage disease type 1b. J Biol Chem 274: 5532-5536
30. Howell RR, Stevenson RE, Ben-Menahem Y, Phyliky RL, Berry H (1976) Hepatic adenomata with type 1 glycogen storage disease. JAMA 236: 1481-1484
31. Huismans D, Rake JP, Visser G, Piers DA, Smit GPA (1997) Decreased bone mineral density in glycogen storage disease type 1. J Inherit Metab Dis 20[Suppl 1]: 81
32. Ihara K, Nomura A, Hikino S, Takada H, Hara T (2000) Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haemopoetic progenitor cells. J Inherit Metab Dis 23: 583-592
33. Kalhan SC, Gilfillan C, Tserng KY, Savin SM (1982) Glucose production in type 1 glycogen storage disease. J Pediatr 101: 159-160
34. Keane WF (1996) Lipids and progressive renal failure. Wien Klin Wochenschr 14: 420-424
35. Keane WF (2000) The role of lipids in renal disease: future challenges. Kidney Int 57: S27-S31
36. Kelsch RC, Oliver WJ (1969) Studies on dietary correction of metabolic abnormalities in hepatorenal glycogenosis. Pediatr Res 3: 160-170
37. Kilpatrick I, Garty B-Z, Lundquist KF, Hunter K, Stanley CA, Baker L, Douglas SD, Korchak HM (1990) Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b. J Clin Invest 86: 196-202
38. Lee PJ, Patel JS, Fewtrell M, Leonard JV, Bishop NJ (1995) Bone mineralisation in type 1 glycogen storage disease. Eur J Pediatr 54: 483-487
39. Leese T, Farges O, Bismuth H (1988) Liver cell adenomas: a 12-year surgical experience from a specialist hepatobiliary unit. Ann Surg 205: 558-561
40. Leffert HL, Koch KS, Moran T, Rubalcava B (1979) Hormonal control of liver regeneration. Gastroenterology 760: 1470-1482
41. Lei KJ, Chen YT, Chen H, Wong LJC, Liu JL et al (1995) Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet 57: 766-771
42. Lei KJ, Chen H, Pan CJ, Ward JM, Mosinger B Jr et al (1996) Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type 1a mouse. Nat Genet 13: 203-209
43. Levy E, Thibault LA, Roy CC, Bendayan M, Lepage G (1988) Circulating lipids and lipoproteins in glycogen storage disease type 1 with nocturnal gastric feeding. J Lipid Res 29: 215-226
44. Limmer J, Fleig WE, Leupold D, Bittner R, Ditschuneit H, Beger HG (1988) Hepatocellular carcinoma in type 1 glycogen storage disease. Hepatology 8: 531-537
45. Lin B, Hiraiwa H, Pan CJ, Nordlie RC, Chou JY (1999) Type 1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene. Hum Genet 105: 515-517
46. Mason DH, Anderson DH (1955) Glycogen disease of the liver (von Gierke's disease) with hepatoma: case report with metabolic studies. Pediatrics 16: 785-799
47. Narisawa K, Igarashi Y, Otomo H, Tada K (1978) A new variant of glycogen storage disease type 1 probably due to a defect in the glucose-6-phosphate transport system. Biochem Biophys Res Commun 83: 1360-1364
48. Nordlie RC, Sukalski KA, Munoz JM, Baldwin JJ (1983) Type 1c, a novel glycogenosis. Underlying mechanism. J Biol Chem 258: 9739-9744
49. Nordlie RC, Scott HM, Waddell I, Hume R, Burchell A (1992) Analysis of human hepatic microsomal glucose-6-phosphatase in clinical conditions where the T2 pyrophosphate/phosphate transport protein is absent. Biochem J 281: 859-863
50. Oda H, Keane WF (1999) Recent advances in statins and the kidney. Kidney Int 56[Suppl 7]: S2-S5
51. Ozen H, Ciliv G, Kocak N, Satik IN, Yuce A, Gorokan F (2000) Short term effect of captopril on microalbuminuria in children with glycogen storage disease type 1a. J Inherit Metab Dis 23: 459-463
52. Pan CJ, Lei KJ, Annabi B, Hemrika W, Chou JY (1998) Transmembrane topology of glucose-6-phosphatase. J Biol Chem 273: 6144-6148
53. Parker P, Burr I, Slonim A, Gishan FK, Green H (1981) Regression of hepatic adenoma in type 1a glycogen storage disease with dietary therapy. Gastroenterology 81: 534-536
54. Powell RC, Wentworth SM, Brandt JK (1981) Endogenous glucose production in type 1 glycogen storage disease. Metabolism 30: 443-450
55. Roe TF, Thomas DW, Gisanz V, Isaacs H Jr, Atkinson JB (1986) Inflammatory bowel disease in glycogen storage disease type 1b. J Pediatr 109: 55-59
56. Roe TF, Coates TD, Thomas DW, Miller JH, Gilsanz V (1992) Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type 1b with colony stimulating factors. N Engl Med 326: 1666-1669
57. Rother KI, Schwenk WF (1995) Glucose production in glycogen storage disease 1 is not associated with increased cycling through hepatic glycogen. Am J Physiol 269: E774-E778
58. Sadeghi-Nejad A, Hochmann H, Senior B (1974) Studies in type 1 glycogenosis of the liver. J Pediatr 85: 49-54
59. Schoenheimer R (1929) Über eine eigenartige Störung des Kohlenhydratstoffwechsels. Z. Physiol Chem 182: 149-151
60. Schulze H, Nolte B, Kannler R (1986) Evidence for changes in the conformational status of rat liver microsomal glucose-6-phosphate:phosphohydrolase during detergent dependent modification. J Biol Chem 261: 16571-16578
61. Selby R, Starzl TE, Yunis E, Todo S, Tzakis AG, Brown BI, Kendall RS (1993) Liver transplantation for type 1 and type IV glycogen storage disease. Eur J Pediatr 152[Suppl 1]: S71-S76
62. Senior B, Loridan L (1968) Studies of liver glycogenosis, with particular reference to the metabolism of intravenously administered glycerol. N Engl J med 279: 958-970
63. Shanahan F, Bernstein CN (1993) Odd forms of inflammatory bowel disease: what can they tell us? Gastroenterology 104: 327-329
64. Smit GPA (1993) results of the European Study on Glycogen Storage Type 1. Eur J Pediatr 152 [Suppl 1]: S52-S55
65. Srivastava T, Alon US (1999) Biphosphonates: from grandparents to grandchildren. Clin Pediatr 38: 687-702
66. Starzl TF, Putman CV, Porter KA, Halgrimson CG, Corman J et al (1973) Portal diversion for the treatment of glycogen storage disease in humans. Ann Surg 178: 525-539
67. Steim H, Zollinger HU (1967) Tödliche Schrumpfniere bei Glykogenspeicherkrankheit typ Von Gierke. Klin Wochenschr 45: 295-299
68. Talente GM, Coleman GA, Alter C, Baker L, Brown BI, Cannon RA et al (1994) Glycogen storage disease in adults. Ann Intern Med 120: 218-226
69. Tsalikian E, Simmons P, Gerich JE, Howard C, Haymond MW (1984) Glucose production and utilisation in children with glycogen storage disease type 1. Am J Physiol 247: E513-E519
70. Van Hoof F, Hue L, De Barsy T, Jacquemin P, Devos P, Hers HG (1972) Gylcogen storage diseases. Biochimie 54: 745-752
71. Veiga-da-Cunha M, Gerin M, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E (1999) The putative glucose-6-phosphatase gene is mutated essentially in all cases of glycogen storage disease type 1 non-a. Eur J Hum Genet 7: 717-723
72. Verhoeven AJ, Visser G, Zwieten RV, Gruszczynska B, Pol-The BT, Smit GPA (1999) A convenient diagnostic function test of peripheral blood neutrophils in glycogen storage disease 1b. Pediatr Res 45: 881-885
73. Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, Ullrich K, Smit GPA (2000) Neutropenia, neutrophil dysfunction and inflammatory bowel disease in glycogen storage disease type 1b. J Pediatr 137: 187-191
74. Von Gierke E (1929) Hepato-nephro-megalia-glycogenica (Glykogenspeicherkrankheit der Leber und Nieren). Beitr Pathol Anat 82: 497-513
75. Waddell I, Scott H, Grant A, Burchell A (1991) Identification and characterisation of a rat microsomal glucose transport protein. Glucose-6-phosphatase T3? Biochem J 285: 173-177
76. Wallace JL, McKnight W, Asfaha S, Lin DY (1998) Reduction od acute and reactive colitis in rats by an inhibitor of neutrophil activation. Am J Physiol 274: G802-G808
77. Weinstein DA, Somer MJG, Wolsdorf JI (2000) Inverse correlation between urinary citrate excretion and age in type 1a glycogen storage disease: pathophysiology and implications for renal complications. Pediatr Res 47[Suppl 454]: A2686
78. Wolfsdorf JI, Crigler JF Jr (1999) Effect of continuous glucose therapy begun in infancy on the long term clinical course of patients with type 1 glycogen storage disease. J Pediatr Gastroenterol Nutr 29: 136-143
79. Zingone A, Hiraiwa H, Pan CJ, Lin B, Chen H, Ward JM, Chou YC (2000) Correction of glycogen storage disease type 1a in a mouse model by gene therapy. J Biol Chem 275: 828-832