Glycogen storage disease type I: Diagnosis and phenotype/genotype correlation

European Journal of Pediatrics, Supplement

Volumn 161, Issue 1, 2002, Pages S10-S19

  Matern, Dietrich ^a   Seydewitz, Hans Hermann ^b   Bali, Deeksha ^c   Lang, Christine ^b   Chen, Yuan Tsong ^c  

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF FREIBURG   (Germany)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Diagnosis; Glucose 6 phosphatase; Glucose 6 phosphate translocase; Glycogen storage disease type I; Molecular genetics

Indexed keywords

CARRIER PROTEIN; GLUCOSE 6 PHOSPHATASE;

CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; CORRELATION ANALYSIS; G6PC GENE; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC RISK; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 1; HEPATOMEGALY; HUMAN; HYPERLIPIDEMIA; HYPERURICEMIA; HYPOGLYCEMIA; LACTIC ACIDEMIA; LIVER CELL CARCINOMA; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NEUTROPENIA; NEUTROPHIL; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE;

ALLELES; ANTIPORTERS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; GENOTYPE; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION, MISSENSE; PHENOTYPE;

EID: 0036392426     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf02679989     Document Type: Article

References (64)

1. Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K (2000) Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. Am J Med Genet 91: 107-112
2. Chen YT (2000) The glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1521-1551
3. Chevalier-Porst F, Bozon D, Bonardort AM, Bruni N, Mithieux G, Mathieu M, Maire I (1996) Mutation analysis in 24 French patients with glycogen storage disease type 1a. J Med Genet 33: 358-360
4. Chiang SC, Lee YM, Chang MH, Wang TR, Ko TM, Hwu WL (2000) Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia. J Hum Genet 45: 197-199
5. Cori GT, Cori CF (1952) Glucose-6-phosphatase of the liver in glycogen storage disease. J Biol Chem 199: 661-667
6. Galli L, Orrico A, Marcolongo P, Fulceri R, Burchell A, Melis D, Parini R, Gatti R, Lam CW, Benedetti A, Sorrentino V (1999) Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. FEBS Lett 459: 255-258
7. Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E (1997) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett 419: 235-238
8. Goto M, Taki T, Sugie H, Miki Y, Kato H, Hayashi Y (2000) A novel mutation in the glucose-6-phosphatase gene in Korean twins with glycogen storage disease type Ia. J Inherit Metab Dis 23: 851-852
9. Hiraiwa H, Pan CJ, Lin BC, Moses SW, Chou JY (1999) Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. J Biol Chem 274: 5532-5536
10. Hou DC, Kure S, Suzuki Y, Hasegawa Y, Hara Y, Inoue T, Kida Y, Matsubara Y, Narisawa K (1999) Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. Am J Med Genet 86: 253-257
11. Huner G, Podskarbi T, Schutz M, Baykal T, Sarbat G, Shin YS, Demirkol M (1998) Molecular aspects of glycogen storage disease type Ia in Turkish patients - a novel mutation in the glucose-6-phosphatase gene. J Inherit Metab Dis 21: 445-446
12. Ihara K, Kuromaru R, Hara T (1998) 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 103: 493-496
13. Janecke AR, Lindner M, Erdel M, Mayatepek E, Moslinger D, Podskarbi T, Fresser F, Stockler-Ipsiroglu S, Hoffmann GF, Utermann G (2000) Mutation analysis in glycogen storage disease type 1 non-a. Hum Genet 107: 285-289
14. Kajihara S, Matsuhashi S, Yamamoto K, Kido K, Tsuji K, Tanae A, Fujiyama S, Itoh T, Tanigawa K, Uchida M, Setoguchi Y, Motomura M, Mizuta T, Sakai T (1995) Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. Am J Hum Genet 57: 549-555
15. Karasawa Y, Kobayashi M, Nakano Y, Aoki Y, Kawa S, Kiyosawa K, Seki H, Kawasaki S, Furihata K, Itoh N (1998) A case of glycogen storage disease type Ia with multiple hepatic adenomas and G727T mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported. Am J Gastroenterol 93: 1550-1553
16. Keller KM, Schutz M, Podskarbi T, Bindl L, Lentze MJ, Shin YS (1998) A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. J Pediatr 132: 360-361
17. Kozak L, Francova H, Hrabincova E, Stastna S, Peskova K, Elleder M (2000) Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5. Hum Mutat 16: 89
18. Kure S, Hou DC, Suzuki Y, Yamagishi A, Hiratsuka M, Fukuda T, Sugie H, Kondo N, Matsubara Y, Narisawa K (2000) Glycogen storage disease type Ib without neutropenia. J Pediatr 137: 253-256
19. Lam CW, But WM, Shek CC, Tong SF, Chan YS, Choy KW, Tse WY, Pang CP, Hjelm NM (1998) Glucose-6-phosphatase gene (727G>T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a. Clin Genet 53: 184-190
20. Lam CW, Tong SF, Lam YY, Chan BY, Ma CH, Lim PL (1999) Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease Ib. Hum Mutat Online Report: 57
21. Lam CW, Chan KY, Tong SF, Chan BY, Chan YT, Chan YW (2000a) A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b. Hum Mutat 16: 94
22. Lam CW, Sin SY, Lau ET, Lam YY, Poon P, Tong SF (2000b) Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography. Prenat Diagn 20: 765-768
23. Lee WJ, Lee HM, Chi CS, Shu SG, Lin LY, Lin WH (1996a) Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. Clin Genet 50: 206-211
24. Lee WJ, Yang CH, Ho ESC, Shih A, Lin LY, Lin WH (1996b) Prenatal diagnosis in a Chinese family with type Ia glycogen storage disease by PCR-based genetic analysis. Prenat Diag 16: 1027-1031
25. Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science 262: 580-583
26. Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY 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
27. Lei KJ, Shelly LL, Lin B, Sidbury JB, Chen YT, Nordlie RC, Chou JY (1995) Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. J Clin Invest 95: 234-240
28. 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
29. Loeschke A (1932) Zur Klinik der Glykogenspeicherungskrankheit (v. Gierkesche Krankheit). Z Kinderheilkd 53: 553-567
30. Marcolongo P, Barone V, Priori G, Pirola B, Giglio S, Biasucci G, Zammarchi E, Parenti G, Burchell A, Benedetti A, Sorrentino V (1998) Structure and mutation analysis of the glycogen storage disease type Ib gene. FEBS Lett 436: 247-250
31. Matern D, Niederhoff H, Brandis M, Chou JY (1996) Verification of diagnosis in a 17-year-old boy with clinical glycogen storage disease type Ia by mutation screening. J Inherit Metab Dis 19: 205-208
32. Matern D, Lang C, Beck S, Brandis M, Seydewitz HH (1998) Diagnosis of glycogen storage disease type Ia - DNA-analysis of leukocytes as an alternative to the enzyme assay in a liver biopsy specimen. Monatsschr Kinderheilkd 146: 660-664
33. Nakamura T, Ozawa T, Kawasaki T, Yasumi K, Wang DY, Kitagawa M, Takehira Y, Tamakoshi K, Yamada M, Kida H, Sugie H, Nakamura H, Sugimura H (1999) Case report: hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family. J Gastroenterol Hepatol 14: 553-558
34. Nordlie RC, Sukalski KA, Munoz JM, Baldwin JJ (1983) Type Ic, a novel glycogenosis. Underlying mechanism. J Biol Chem 258: 9739-9744
35. Okubo M, Aoyama Y, Kishimoto M, Shishiba Y, Murase T (1997) Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers. Clin Genet 51: 179-183
36. Pan CJ, Lei KJ, Chou JY (1998) Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase. J Biol Chem 273: 21658-21662
37. Parvari R, Hershkovitz E, Carmi R, Moses S (1996) Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP). Prenat Diag 16: 862-865
38. Parvari R, Lei KJ, Bashan N, Hershkovitz E, Korman SH, Barash V, Lerman-Sagie T, Mandel H, Chou JY, Moses SW (1997) Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. Am J Med Genet 72: 286-290
39. Parvari R, Lei KJ, Szonyi L, Narkis G, Moses S, Chou JY (1997) Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients. Eur J Hum Genet 5: 191-195
40. Parvari R, Isam J, Moses SW (1999) Glycogen storage disease type 1a in three siblings with the G270V mutation. J Inherit Metab Dis 22: 149-154
41. Qu Y, Abdenur JE, Eng CM, Desnick RJ (1996) Molecular prenatal diagnosis of glycogen storage disease type Ia. Prenat Diag 16: 333-336
42. Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CH, Smit GPA, Scheffer H (2000a) Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart. Eur J Pediatr 159: 322-330
43. Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CH, Smit GP, Scheffer H (2000b) Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes. Hum Mutat (Online) 15: 381
44. Santer R, Rischewski J, Block G, Kinner M, Wendel U, Schaub J, Schneppenheim R (2000) Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. Hum Mutat 16: 177
45. Sartorato EL, Reis FC, Norato DYJ, Hackel C (1998) A novel mutation in a Brazilian patient with glycogen storage disease type 1a. J Inherit Metab Dis 21: 447
46. Schall L (1932) 3 Fälle von Glykogenspeicherkrankheit (Hepatomegalie glykogenica v. Gierke). Münch Med Wschr 79: 2078-2080
47. Senior B, Loridan L (1968) Studies of liver glycogenoses, with particular reference to the metabolism of intravenously administered glycerol. N Engl J Med 279: 958-965
48. Seydewitz HH, Matern D (2000) Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. Hum Mutat 15: 115-116
49. Seydewitz HH, Hinkel GK, Matern D, Brandis M (1998) Pränataldiagnose durch Mutationsanalyse des Glucose-6-Phosphatase-Gens bei einer Familie mit Glykogenose Typ Ia. Monatsschr Kinderheilkd 146: 135
50. Stroppiano M, Regis S, DiRocco M, Caroli F, Gandullia P, Gatti R (1999) Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. J Inherit Metab Dis 22: 43-49
51. Takahashi K, Akanuma J, Matsubara Y, Fujii K, Kure S, Suzuki Y, Wataya K, Sakamoto O, Aoki Y, Ogasawara M, Ohura T, Miyabayashi S, Narisawa K (2000) Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia. Am J Med Genet 92: 90-94
52. Trioche P, Francoual J, Audibert F, Chalas J, Lindenbaum A, Odievre M, Labrune P (1998) Prenatal diagnosis of glycogen storage disease type Ia by restriction enzyme digestion. Prenat Diag 18: 629-631
53. Trioche P, Francoual J, Chalas J, Capel L, Lindenbaum A, Odievre M, Labrune P (2000) Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients. Hum Mutat 16: 444
54. Unselm E (1932) Die Glykogenkrankheit. Jahrb Kinderheilkd 137: 257-278
55. Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, VanSchaftingen E (1998) A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Am J Hum Genet 63: 976-983
56. Veiga-Da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E (1999) 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 7: 717-723
57. Veiga-da-Cunha M, Gerin I, Van Schaftingen E (2000) How many forms of glycogen storage disease type I? Eur J Pediatr 159: 314-318
58. Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, Ullrich K, Smit GP (2000) 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 137: 187-191
59. Von Gierke E (1929) Hepato-Nephromegalia glykogenica (Glykogenspeicherkrankheit der Leber und Nieren). Beitr Pathol Anat 82: 497-513
60. Weston BW, Lin JL, Muenzer J, Cameron HS, Arnold RR, Seydewitz HH, Mayatepek E, Van Schaftingen E, Veiga-Da-Cunha M, Matern D, Chen YT (2000) Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. Pediatr Res 48: 329-334
61. Wong LJC (1996) Prenatal diagnosis of glycogen storage disease type Ia by direct mutation detection. Prenat Diag 16: 105-108
62. Wong LJC, Hwu WL, Dai P, Chen TJ (2001) Molecular genetics of glycogen storage disease type Ia in Chinese patients of Taiwan. Mol Genet Metab 72: 175-180
63. Wu MC, Tsai F, Lee CC, Tsai CH, Wu JY (2000a) A novel missense mutation (H119L) identified in a Taiwan chinese family with glycogen storage disease Ia (Von Gierke disease). Hum Mutat 16: 447
64. Wu MC, Tsai FJ, Le CC, Lin SP, Wu JY (2000b) Identification of a novel missense mutation (T16A) in the glucose-6-phos-phatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease). Hum Mut (Online) 15: 390