Glycogen storage diseases: New perspectives

World Journal of Gastroenterology

Volumn 13, Issue 18, 2007, Pages 2541-2553

  Özen, Hasan ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Glycogen storage disease; Liver; Muscle

Indexed keywords

ADENOVIRUS VECTOR; ALANINE AMINOTRANSFERASE; ALLOPURINOL; APOENZYME; ASPARTATE AMINOTRANSFERASE; BICARBONATE; CAPTOPRIL; CITRATE POTASSIUM; CREATINE KINASE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; FIBRIC ACID DERIVATIVE; FRUCTOSE BISPHOSPHATE ALDOLASE; GLUCAGON; GLUCOSE 6 PHOSPHATASE; GRANULOCYTE COLONY STIMULATING FACTOR RECEPTOR; HYDROCORTISONE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; INSULIN; LACTATE DEHYDROGENASE; NICOTINIC ACID; PHOSPHORYLASE; PHOSPHORYLASE KINASE; RAMIPRIL; VITAMIN D;

ABDOMINAL ANGIOGRAPHY; ALBUMINURIA; AUTOSOMAL RECESSIVE INHERITANCE; CALORIC INTAKE; CLINICAL FEATURE; DETERIORATION; DISEASE SEVERITY; DRUG EFFICACY; ELECTROLYTE INTAKE; ENZYME ASSAY; FANCONI RENOTUBULAR SYNDROME; FLUID INTAKE; GENE MUTATION; GENE REPLACEMENT THERAPY; GLUCONEOGENESIS; GLUCOSE INTAKE; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 1 A; GLYCOGEN STORAGE DISEASE TYPE 1 B; GLYCOGEN STORAGE DISEASE TYPE 1 C; GLYCOGEN STORAGE DISEASE TYPE 1 D; GLYCOGEN STORAGE DISEASE TYPE 11; GLYCOGEN STORAGE DISEASE TYPE 2; GLYCOGEN STORAGE DISEASE TYPE 3; GLYCOGEN STORAGE DISEASE TYPE 3 A; GLYCOGEN STORAGE DISEASE TYPE 4; GLYCOGEN STORAGE DISEASE TYPE 5; GLYCOGEN STORAGE DISEASE TYPE 6; GLYCOGEN STORAGE DISEASE TYPE 7; GLYCOGEN STORAGE DISEASE TYPE 9; GLYCOGEN SYNTHESIS; GLYCOLYSIS; GROWTH RETARDATION; HEPATOMEGALY; HUMAN; HYPERLACTATEMIA; HYPERLIPIDEMIA; HYPERURICEMIA; HYPOGLYCEMIA; INCIDENCE; INTESTINE; KIDNEY; LEUKOCYTE; LIVER; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER TRANSPLANTATION; LONG TERM CARE; MUSCLE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PROTEIN DIET; RECOMMENDED DRUG DOSE; REVIEW; RISK ASSESSMENT; RISK FACTOR; SYMPTOMATOLOGY; VIRAL GENE DELIVERY SYSTEM; X CHROMOSOME LINKED DISORDER; X LINKED LIVER PHOSPHORYLASE KINASE DEFICIENCY;

EID: 34250661859     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.v13.i18.2541     Document Type: Review

References (165)

1. Roach PJ. Glycogen and its metabolism. Curr Mol Med 2002; 2: 101-120
2. Saltik IN, Ozen H, Ciliv G, Kocak N, Yuce A, Gurakan F, Dinler G. Glycogen storage disease type Ia: frequency and clinical course in Turkish children. Indian J Pediatr 2000; 67: 497-501
3. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000; 105: e10
4. Chen YT. Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Vale D, Childs B, Kinzler KW, Vogelstein B. The metabolic & molecular basis of inherited diseases. New York: McGraw-Hill, 2001: 1521-1552
5. Lewis GM, Spencer-Peet J, Stewart KM. Infantile hypoglycaemia due to inherited deficiency of glycogen synthetase in liver. Arch Dis Child 1963; 38: 40-48
6. Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ, Groop LC. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest 1998; 102: 507-515
7. Laberge AM, Mitchell GA, van de Werve G, Lambert M. Long-term follow-up of a new case of liver glycogen synthase deficiency. Am J Med Genet A 2003; 120: 19-22
8. Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol Genet Metab 2006; 87: 284-288
9. Bachrach BE, Weinstein PA, Orho-Melander M, Burgess A, Wolfsdorf JI. Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. J Pediatr 2002; 140: 781-783
10. van Schaftingen E, Gerin I. The glucose-6-phosphatase system. Biochem J 2002; 362: 513-532
11. Ekstein J, Rubin BY, Anderson SL, Weinstein PA, Bach G, Abeliovich D, Webb M, Risch N. Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am J Med Genet A 2004; 129: 162-164
12. CORI GT, CORI CF. Glucose-6-phosphatase of the liver in glycogen storage disease. J Biol Chem 1952; 199: 661-667
13. Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G, Ho PP, Merajver S, Chandrasekharappa SC, Xu J. Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. Genomics 1995; 25: 238-247
14. Lei KJ, Pan CJ, Shelly LL, Liu JL, Chou JY. Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. J Clin Invest 1994; 93: 1994-1999
15. Yang Chou J, Mansfield BC. Molecular Genetics of Type 1 Glycogen Storage Diseases. Trends Endocrinol Metab 1999; 10: 104-113
16. Lei KJ, Pan CT, Shelly LL, Liu JL, Chou JY. Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. J Clin Invest 1994; 93: 1994-1999
17. Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002; 161 Suppl 1: S20-S34
18. Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP. Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002; 161 Suppl 1: S112-S119
19. Visser G, Rake JP, Kokke FT, Nikkels PG, Sauer PJ, Smit GP. Intestinal function in glycogen storage disease type I. J Inherit Metab Dis 2002; 25: 261-267
20. Pabuccuoglu A, Aydogdu S, Bas M. Serum biotinidase activity in children with chronic liver disease and its clinical significance. J Pediatr Gastroenterol Nutr 2002; 34: 59-62
21. Saltik IN, Ozen H, Kocak N, Yuce A, Gurakan F. High biotinidase activity in type Ia glycogen storage disease. Am J Gastroenterol 2000; 95: 2144
22. Burlina AB, Dermikol M, Mantau A, Piovan S, Grazian L, Zacchello F, Shin Y. Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation. J Inherit Metab Dis 1996; 19: 209-212
23. Gogus S, Kocak N, Ciliv G, Karabulut E, Akcoren Z, Kale G, Caglar M. Histologic features of the liver in type Ia glycogen storage disease: comparative study between different age groups and consecutive biopsies. Pediatr Dev Pathol 2002; 5: 299-304
24. Smit GP. The long-term outcome of patients with glycogen storage disease type Ia. Eur J Pediatr 1993; 152 Suppl 1: S52-S55
25. Talente GM, Coleman RA, Alter C, Baker L, Brown BI, Cannon RA, Chen YT, Crigler JF Jr, Ferreira P, Haworth JC, Herman GE, Issenman RM, Keating JP, Linde R, Roe TF, Senior B, Wolfsdorf JI. Glycogen storage disease in adults. Ann Intern Med 1994; 120: 218-226
26. Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB. Renal disease in type I glycogen storage disease. N Engl J Med 1988; 318: 7-11
27. Lin CC, Tsai JD, Lin SP, Lee HC. Renal sonographic findings of type I glycogen storage disease in infancy and early childhood. Pediatr Radiol 2005; 35: 786-791
28. Restaino I, Kaplan BS, Stanley C, Baker L. Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr 1993; 122: 392-396
29. Reitsma-Bierens WC. Renal complications in glycogen storage disease type I. Eur J Pediatr 1993; 152 Suppl 1: S60-S62
30. Cabrera-Abreu J, Crabtree NJ, Elias E, Fraser W, Cramb R, Alger S. Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX. J Inherit Metab Dis 2004; 27: 1-9
31. Miller JH, Gates GF, Landing BH, Kogut MD, Roe TF. Scintigraphic abnormalities in glycogen storage disease. J Nucl Med 1978; 19: 354-358
32. Zangeneh F, Limbeck GA, Brown BI, Emch JR, Arcasoy MM, Goldenberg VE, Kelley VC. Hepatorenal glycogenosis (type I glycogenosis) and carcinoma of the liver. J Pediatr 1969; 74: 73-83
33. Fraumeni JF Jr. Rosen PJ, Hull EW, Barth RF, Shapiro SR, O'Connor JF. Hepatoblastoma in infant sisters. Cancer 1969; 24: 1086-1090
34. Lee P, Mather S, Owens C, Leonard J, Dicks-Mireaux C. Hepatic ultrasound findings in the glycogen storage diseases. Br J Radiol 1994; 67: 1062-1066
35. Franco LM, Krishnamurthy V, Bali D, Weinstein DA, Arn P, Clary B, Boney A, Sullivan J, Frush DP, Chen YT, Kishnani PS. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J Inherit Metab Dis 2005; 28: 153-162
36. Bianchi L. Glycogen storage disease I and hepatocellular tumours. Eur J Pediatr 1993; 152 Suppl 1: S63-S70
37. Trioche P, Francoual J, Capel L, Odievre M, Lindenbaum A, Labrune P. Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia. J Inherit Metab Dis 2000; 23: 107-112
38. Muhlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K, Santer R. Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia. J Inherit Metab Dis 2005; 28: 945-950
39. Hutton RA, Macnab AJ, Rivers RP. Defect of platelet function associated with chronic hypoglycaemia. Arch Dis Child 1976; 51: 49-55
40. Wittenstein B, Klein M, Finckh B, Ullrich K, Kohlschutter A. Radical trapping in glycogen storage disease 1a. Eur J Pediatr 2002; 161 Suppl 1: S70-S74
41. Wittenstein B, Klein M, Finckh B, Ullrich K, Kohlschutter A. Plasma antioxidants in pediatric patients with glycogen storage disease, diabetes mellitus, and hypercholesterolemia. Free Radic Biol Med 2002; 33: 103-110
42. Melis D, Parenti G, Della Casa R, Sibilio M, Romano A, Di Salle F, Elefante R, Mansi G, Santoro L, Perretti A, Paludetto R, Sequino L, Andria G. Brain damage in glycogen storage disease type I. J Pediatr 2004; 144: 637-642
43. Ryan IP, Havel RJ, Laros RK Jr. Three consecutive pregnancies in a patient with glycogen storage disease type IA (von Gierke's disease). Am J Obstet Gynecol 1994; 170: 1687-1690; discussion 1690-1691
44. Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet 1995; 57: 766-771
45. Huner G, Podskarbi T, Schutz M, Baykal T, Sarbat G, Shin YS, Demirkol M. Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene. J Inherit Metab Dis 1998; 21: 445-446
46. Terzioglu M, Emre S, Ozen H, Saltik IN, Kocak N, Ciliv G, Yuce A, Gurakan F. Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia. J Inherit Metab Dis 2001; 24: 881-882
47. Duarte IF, Goodfellow BJ, Barros A, Jones JG, Barosa C, Diogo L, Garcia P, Gil AM. Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution (1)H NMR spectroscopy. NMR Biomed 2006; 20: 401-412
48. Qu Y, Abdenur JE, Eng CM, Desnick RJ. Molecular prenatal diagnosis of glycogen storage disease type Ia. Prenat Diagn 1996; 16: 333-336
49. Chen YT, Cornblath M, Sidbury JB. Cornstarch therapy in type I glycogen-storage disease. N Engl J Med 1984; 310: 171-175
50. Lee PJ, Dixon MA, Leonard JV. Uncooked cornstarch - efficacy in type I glycogenosis. Arch Dis Child 1996; 74: 546-547
51. Milla PJ, Atherton DA, Leonard JV, Wolff OH, Lake BD. Disordered intestinal function in glycogen storage disease. J Inherit Metab Dis 1978; 1: 155-157
52. Pears J, Jung RT, Jankowski J, Waddell ID, Burchell A. Glucose-6-phosphatase in normal adult human intestinal mucosa. Clin Sci (Lond) 1992; 83: 683-687
53. Bodamer OA, Feillet F, Lane RE, Lee PJ, Dixon MA, Halliday D, Leonard JV. Utilization of cornstarch in glycogen storage disease type Ia. Eur J Gastroenterol Hepatol 2002; 14: 1251-1256
54. Ozen H, Ciliv G, Kocak N, Saltik IN, Yuce A, Gurakan F. Short-term effect of captopril on microalbuminuria in children with glycogen storage disease type Ia. J Inherit Metab Dis 2000; 23: 459-463
55. Gianni ML, Bonvissuto M, Gallieni M, Testolin C, Racchi E, Riva E. Ramipril treatment in a patient with glycogen storage disease I non-A. J Inherit Metab Dis 2002; 25: 515-516
56. Baker L, Kern EFO, Olshan J, Goldfarb S, Dahlem ST. Pilot study of captopril in patients with renal disease associated with glycogen storage disease type I (GSDI). Pediatr Res 1988; 23: 388A
57. Nuoffer JM, Mullis PE, Wiesmann UN. Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth. J Inherit Metab Dis 1997; 20: 790-798
58. Koeberl DD, Kishnani PS, Chen YT. Glycogen storage disease types I and II treatment updates. J Inherit Metab Dis 2007; 30: 159-164
59. Faivre L, Houssin D, Valayer J, Brouard J, Hadchouel M, Bernard O. Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia. J Inherit Metab Dis 1999; 22: 723-732
60. Liu PP, de Villa VH, Chen YS, Wang CC, Wang SH, Chiang YC, Jawan B, Cheung HK, Cheng YF, Huang TL, Eng HL, Chuang FR, Chen CL. Outcome of living donor liver transplantation for glycogen storage disease. Transplant Proc 2003; 35: 366-368
61. Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT. Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr 1999; 158 Suppl 2: S43-S48
62. Emmett M, Narins RG. Renal tranplantation in type 1 glycogenosis. Failure to improve glucose metabolism. JAMA 1978; 239: 1642-1644
63. Senior B, Loridan L. Functional differentiation of glycogenoses of the liver with respect to the use of glycerol. N Engl J Med 1968; 279: 965-970
64. Arion WJ, Wallin BK, Lange AJ, Ballas LM. On the involvement of a glucose 6-phosphate transport system in the function of microsomal glucose 6-phosphatase. Mol Cell Biochem 1975; 6: 75-83
65. Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY. The gene for glycogen-storage disease type 1b maps to chromosome 11q23. Am J Hum Genet 1998; 62: 400-405
66. Ihara K, Kuromaru R, Hara T. Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib. Hum Genet 1998; 103: 493-496
67. Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, Ullrich K, Smit GP. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J Pediatr 2000; 137: 187-191
68. Ihara K, Nomura A, Hikino S, Takada H, Hara T. Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells. J Inherit Metab Dis 2000; 23: 583-592
69. Ueno N, Tomita M, Ariga T, Ohkawa M, Nagano S, Takahashi Y, Arashima S, Matsumoto S. Impaired monocyte function in glycogen storage disease type Ib. Eur J Pediatr 1986; 145: 312-314
70. Leuzzi R, Banhegyi G, Kardon T, Marcolongo P, Capecchi PL, Burger HJ, Benedetti A, Fulceri R. Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b. Blood 2003; 101: 2381-2387
71. Kure S, Hou DC, Suzuki Y, Yamagishi A, Hiratsuka M, Fukuda T, Sugie H, Kondo N, Matsubara Y, Narisawa K. Glycogen storage disease type Ib without neutropenia. J Pediatr 2000; 137: 253-256
72. Roe TF, Thomas DW, Gilsanz V, Isaacs H Jr, Atkinson JB. Inflammatory bowel disease in glycogen storage disease type Ib. J Pediatr 1986; 109: 55-59
73. Saltik-Temizel IN, Kocak N, Ozen H, Yuce A, Gurakan F, Demir H. Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count. Turk J Pediatr 2005; 47: 180-182
74. Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della Casa R, Zammarchi E, Andria G, Benedetti A. Genotype/ phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr 2005; 164: 501-508
75. Martin AP, Bartels M, Schreiber S, Buehrdel P, Hauss J, Fangmann J. Successful staged kidney and liver transplantation for glycogen storage disease type Ib: A case report. Transplant Proc 2006; 38: 3615-3619
76. Melis D, Pivonello R, Parenti C, Della Casa R, Salerno M, Lombardi G, Sebastio G, Colao A, Andria G. Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. J Pediatr 2007; 150: 300-305, 305.e1
77. Narisawa K, Otomo H, Igarashi Y, Arai N, Otake M, Tada K, Kuzuya T. Glycogen storage disease type 1b: microsomal glucose-6-phosphatase system in two patients with different clinical findings. Pediatr Res 1983; 17: 545-549
78. Kovacevic A, Ehrlich R, Mayatepek E, Wendel U, Schwahn B. Glycogen storage disease type Ib without hypoglycemia. Mol Genet Metab 2007; 90: 349-350
79. Greene HL, Slonim AE, O'Neill JA Jr, Burr IM. Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease. N Engl J Med 1976; 294: 423-425
80. Chen YT, Cornblath M, Sidbury JB. Cornstarch therapy in type I glycogen-storage disease. N Engl J Med 1984; 310: 171-175
81. Schroten H, Roesler J, Breidenbach T, Wendel U, Elsner J, Schweitzer S, Zeidler C, Burdach S, Lohmann-Matthes ML, Wahn V. Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib. J Pediatr 1991; 119: 748-754
82. Roe TF, Coates TD, Thomas DW, Miller JH, Gilsanz V. Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors. N Engl J Med 1992; 326: 1666-1669
83. Yiu WH, Pan CJ, Allamarvdasht M, Kim SY, Chou JY. Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice. Gene Ther 2007; 14: 219-226
84. Fenske CD, Jeffery S, Weber JL, Houlston RS, Leonard JV, Lee PJ. Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. J Med Genet 1998; 35: 269-272
85. Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur J Hum Genet 1999; 7: 717-723
86. Galli L, Orrico A, Marcolongo P, Fulceri R, Burchell A, Melis D, Parini R, Gatti R, Lam C, Benedetti A, Sorrentino V. Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. FEBS Lett 1999; 459: 255-258
87. Melis D, Havelaar AC, Verbeek E, Smit GP, Benedetti A, Mancini GM, Verheijen F. NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic. J Inherit Metab Dis 2004; 27: 725-733
88. Shen JJ, Chen YT. Molecular characterization of glycogen storage disease type III. Curr Mol Med 2002; 2: 167-175
89. Bao Y, Dawson TL Jr, Chen YT. Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5′ flanking region. Genomics 1996; 38: 155-165
90. Bao Y, Yang BZ, Dawson TL Jr, Chen YT. Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. Gene 1997; 197: 389-398
91. Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT. A single-base deletion in the 3′-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. Eur J Hum Genet 1997; 5: 266-270
92. Santer R, Kinner M, Steuerwald U, Kjærgaard S, Skovby F, Simonsen H, Shaiu WL, Chen YT, Schneppenheim R, Schaub J. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. Eur J Hum Genet 2001; 9: 388-391
93. Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J Clin Invest 1996; 98: 352-357
94. Van Hoof F, Hers HG. The subgroups of type 3 glycogenosis. Eur J Biochem 1967; 2: 265-270
95. Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT. Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. J Pediatr 1990; 116: 95-100
96. Momoi T, Sano H, Yamanaka C, Sasaki H, Mikawa H. Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis. Am J Med Genet 1992; 42: 696-699
97. Coleman RA, Winter HS, Wolf B, Chen YT. Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. J Inherit Metab Dis 1992; 15: 869-881
98. Lucchiari S, Pagliarani S, Salani S, Filocamo M, Di Rocco M, Melis D, Rodolico C, Musumeci O, Toscano A, Bresolin N, Comi GP. Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. Hum Mutat 2006; 27: 600-601
99. Moses SW, Wanderman KL, Myroz A, Frydman M. Cardiac involvement in glycogen storage disease type III. Eur J Pediatr 1989; 148: 764-766
100. Cleary MA, Walter JH, Kerr BA, Wraith JE. Facial appearance in glycogen storage disease type III. Clin Dysmorphol 2002; 11: 117-120
101. Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med 1992; 116: 896-900
102. Lee P, Burch M, Leonard JV. Plasma creatine kinase and cardiomyopathy in glycogen storage disease type III. J Inherit Metab Dis 1995; 18: 751-752
103. Demo E, Frush D, Gottfried M, Koepke J, Boney A, Bali D, Chen YT, Kishnani PS. Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? J Hepatol 2007; 46: 492-498
104. ANDERSEN DH. Familial cirrhosis of the liver with storage of abnormal glycogen. Lab Invest 1956; 5: 11-20
105. Brown BI, Brown DH. Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. Proc Natl Acad Sci USA 1966; 56: 725-729
106. Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med 2002; 2: 177-188
107. Thon VJ, Khalil M, Cannon JF. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. J Biol Chem 1993; 268: 7509-7513
108. L'hermine-Coulomb A, Beuzen F, Bouvier R, Rolland MO, Froissart R, Menez F, Audibert F, Labrune P. Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family. Am J Med Genet A 2005; 139: 118-122
109. Greene HL, Brown BI, McClenathan DT, Agostini RM Jr, Taylor SR. A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease. Hepatology 1988; 8: 302-306
110. Schroder JM, May R, Shin YS, Sigmund M, Nase-Huppmeier S. Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neuropathol (Berl) 1993; 85: 419-430
111. Servidei S, Riepe RE, Langston C, Tani LY, Bricker JT, Crisp-Lindgren N, Travers H, Armstrong D, DiMauro S. Severe cardiopathy in branching enzyme deficiency. J Pediatr 1987; 111: 51-56
112. Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 2004; 63: 1053-1058
113. Alegria A, Martins E, Dias M, Cunha A, Cardoso ML, Maire I. Glycogen storage disease type IV presenting as hydrops fetalis. J Inherit Metab Dis 1999; 22: 330-332
114. Zellweger H, Mueller S, Ionasescu V, Schochet SS, McCormick WE. Glycogenosis. IV. A new cause of infantile hypotonia. J Pediatr 1972; 80: 842-844
115. McMaster KR, Powers JM, Hennigar GR Jr, Wohltmann HJ, Farr GH Jr. Nervous system involvement in type IV glycogenosis. Arch Pathol Lab Med 1979; 103: 105-111
116. Giuffre B, Parinii R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffre M, Corsello G, Mosca F. Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings. J Inherit Metab Dis 2004; 27: 609-619
117. Reusche E, Aksu F, Goebel HH, Shin YS, Yokota T, Reichmann H. A mild juvenile variant of type IV glycogenosis. Brain Dev 1992; 14: 36-43
118. Ferguson IT, Mahon M, Cumming WJ. An adult case of Andersen's disease - Type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study. J Neurol Sci 1983; 60: 337-351
119. Shin YS, Steiguber H, Klemm P, Endres W, Schwab O, Wolff G. Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes. J Inherit Metab Dis 1988; 11 Suppl 2: 252-254
120. Lossos A, Barash V, Soffer D, Argov Z, Gomori M, Ben-Nariah Z, Abramsky O, Steiner I. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol 1991; 30: 655-662
121. Selby R, Starzl TE, Yunis E, Brown BI, Kendall RS, Tzakis A. Liver transplantation for type IV glycogen storage disease. New Eng J Med 1991; 324: 39-42
122. Starzl TE, Demetris AJ, Trucco M, Ricordi C, Ildstad S, Terasaki PI, Murase N, Kendall RS, Kocova M, Rudert WA. Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. N Engl J Med 1993; 328: 745-749
123. Newgard CB, Fletterick RJ, Anderson LA, Lebo RV. The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. Am J Hum Genet 1987; 40: 351-364
124. Hers HG. Enzymatic studies of hepatic fragments; application to the classification of glycogenoses. Rev Int Hepatol 1959; 9: 35-55
125. Tang NL, Hui J, Young E, Worthington V, To KF, Cheung KL, Li CK, Fok TF. A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity. Mol Genet Metab 2003; 79: 142-145
126. Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW. Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. Am J Hum Genet 1998; 62: 785-791
127. Davidson JJ, Ozcelik T, Hamacher C, Willems PJ, Francke U, Kilimann MW. cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis. Proc Natl Acad Sci USA 1992; 89: 2096-2100
128. Hendrickx J, Willems PJ. Genetic deficiencies of the glycogen phosphorylase system. Hum Genet 1996; 97: 551-556
129. Van den Berg IE, Berger R. Phosphorylase b kinase deficiency in man: a review. J Inherit Metab Dis 1990; 13: 442-451
130. Hidaka F, Sawada H, Matsuyama M, Nunoi H. A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1. Pediatr Int 2005; 47: 687-690
131. Schimke RN, Zakheim RM, Corder RC, Hug G. Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. J Pediatr 1973; 83: 1031-1034
132. Willems PJ, Gerver WJ, Berger R, Fernandes J. The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. Eur J Pediatr 1990; 149: 268-271
133. Schippers HM, Smit GP, Rake JP, Visser G. Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX). J Inherit Metab Dis 2003; 26: 43-47
134. Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ, Vilaseca MA, Kilimann MW. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Hum Genet 1998; 102: 423-429
135. Hendrickx J, Coucke P, Hors-Cayla MC, Smit GP, Shin YS, Deutsch J, Smeitink J, Berger R, Lee P, Fernandes J. Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). Genomics 1994; 21: 620-625
136. Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Hum Mol Genet 1997; 6: 1109-1115
137. Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW. Glycogenosis due to liver and muscle phosphorylase kinase deficiency. Pediatr Res 1981; 15: 299-303
138. Maichele AJ, Burwinkel B, Maire I, Sovik O, Kilimann MW. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nat Genet 1996; 14: 337-340
139. Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum Mol Genet 1998; 7: 149-154
140. Manz F, Bickel H, Brodehl J, Feist D, Gellissen K, Gescholl-Bauer B, Gilli G, Harms E, Helwig H, Nutzenadel W. Fanconi-Bickel syndrome. Pediatr Nephrol 1987; 1: 509-518
141. Fanconi G, Bickel H. Not Available Helv Paediatr Acta 1949; 4: 359-396
142. Saltik-Temizel IN, Coskun T, Yuce A, Kocak N. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. Turk J Pediatr 2005; 47: 167-169
143. Fukumoto H, Seino S, Imura H, Seino Y, Eddy RL, Fukushima Y, Byers MG, Shows TB, Bell GI. Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein. Proc Natl Acad Sci USA 1988; 85: 5434-5438
144. Santer R, Schneppenheim R, Dombrowski A, Gotze H, Steinmann B, Schaub J. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet 1997; 17: 324-326
145. Aperia A, Bergqvist G, Linne T, Zetterstrom R. Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings. Acta Paediatr Scand 1981; 70: 527-533
146. Muller D, Santer R, Krawinkel M, Christiansen B, Schaub J. Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. J Inherit Metab Dis 1997; 20: 607-608
147. Lee PJ, Van't Hoff WG, Leonard JV. Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. J Inherit Metab Dis 1995; 18: 153-156
148. Odievre M. Hepato-renal glycogenosis with complex tubulopathy. 2. Cases of a new entity. Rev Int Hepatol 1966; 16: 1-70
149. Haines JL, Ozelius LJ, McFarlane H, Menon A, Tzall S, Martiniuk F, Hirschhorn R, Gusella JF. A genetic linkage map of chromosome 17. Genomics 1990; 8: 1-6
150. Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, Sandkuijl LA, Reuser AJ, van der Ploeg AT. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999; 7: 713-716
151. Matsuishi T, Yoshino M, Terasawa K, Nonaka I. Childhood acid maltase deficiency. A clinical, biochemical, and morphologic study of three patients. Arch Neurol 1984; 41: 47-52
152. Reuser AJ, Kroos M, Willemsen R, Swallow D, Tager JM, Galjaard H. Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. J Clin Invest 1987; 79: 1689-1699
153. Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr 2000; 137: 283-285
154. Beratis NG, LaBadie GU, Hirschhorn K. Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts. J Clin Invest 1978; 62: 1264-1274
155. Francesconi M, Auff E. Cardiac arrhythmias and the adult form of type II glycogenosis. N Engl J Med 1982; 306: 937-938
156. Makos MM, McComb RD, Hart MN, Bennett DR. Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship. Ann Neurol 1987; 22: 629-633
157. Amartino H, Painceira D, Pomponio RJ, Niizawa C, Sabio Paz V, Blanco M, Chamoles N. Two clinical forms of glycogen-storage disease type II in two generations of the same family. Clin Genet 2006; 69: 187-188
158. Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology 1999; 52: 851-853
159. Slonim AE, Coleman RA, McElligot MA, Najjar J, Hirschhorn K, Labadie GU, Mrak R, Evans OB, Shipp E, Presson R. Improvement of muscle function in acid maltase deficiency by high-protein therapy. Neurology 1983; 33: 34-38
160. Isaacs H, Savage N, Badenhorst M, Whistler T. Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures. J Neurol Neurosurg Psychiatry 1986; 49: 1011-1018
161. Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, Mackey J, Kishnani P, Smith W, McVie-Wylie A, Sullivan JA, Hoganson GE, Phillips JA 3rd, Schaefer GB, Charrow J, Ware RE, Bossen EH, Chen YT. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med 2001; 3: 132-138
162. Lebo RV, Anderson LA, DiMauro S, Lynch E, Hwang P, Fletterick R. Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence. Hum Genet 1990; 86: 17-24
163. Grunfeld JP, Ganeval D, Chanard J, Fardeau M, Dreyfus JC. Acute renal failure in McArdle's disease. Report of two cases. N Engl J Med 1972; 286: 1237-1241
164. Howard TD, Akots G, Bowden DW. Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. Genomics 1996; 34: 122-127
165. Tarui S, Okuno G, Ikura Y, Tanaka T, Suda M, Nishikawa M. Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis. Biochem Biophys Res Commun 1965; 19: 517-523