Identification of genetic mutations in Japanese patients with fructose- 1,6-bisphosphatase deficiency

American Journal of Human Genetics

Volumn 61, Issue 4, 1997, Pages 852-861

  Kikawa, Yoshiharu ^a   Inuzuka, Manabu ^a   Jin, Byun Young ^b   Kaji, Satomi ^b   Koga, Jun Ichi ^b   Yamamoto, Yoshiki ^b   Fujisawa, Kazuro ^a   Hata, Ikue ^a   Nakai, Akio ^a   Shigematsu, Yosuke ^a   Mizunuma, Hideo ^c   Taketo, Akira ^a   Mayumi, Mitsufumi ^a   Sudo, Masakatsu ^a  

^a UNIVERSITY OF FUKUI   (Japan)

^b JCR Pharmaceuticals Co Ltd   (Japan)

^c AKITA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

FRUCTOSE BISPHOSPHATASE;

ALLELE; ARTICLE; BASE PAIRING; CELL CULTURE; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE AMPLIFICATION; GENE INSERTION; GENE MUTATION; GLUCONEOGENESIS; HUMAN; PRIORITY JOURNAL;

EID: 16944363755     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/514875     Document Type: Article

References (28)

1. Baker L, Winegrad AI (1970) Fasting hypoglycemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet 7662:13-16
2. Besley GTN, Walter JH, Lewis MA, Chard CR, Addison GM (1994) Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. J Inherit Metab Dis 17:333-335
3. Bührdel P, Böhme HJ, Didt L (1990) Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency. Eur J Pediatr 149:574-576
4. Burlina AB, Palette M, Shin YS, Zacchello F (1990) Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency. J Inherit Metab Dis 13:263-266
5. Cooper DN, Krawczak M (1991) Mechanisms of insertional mutagenesis in human gene causing genetic disease. Hum Genet 87:409-415
6. Deng WP, Nickoloff JA (1992) Site-directed mutagenesis of virtually any plasmid by eliminating a unique site. Anal Biochem 200:81-88
7. El-Maghrabi MR, Gidh-Jain M, Austin LR, Pilkis SJ (1993) Isolation of a human fructose-1,6-bisphosphatase cDNA and expression of the protein in Escherichia coli. J Biol Chem 268:9466-9472
8. El-Maghrabi MR, Lange AJ, Jiang W, Yamagata K, Stoffel M, Takeda J, Fernaid AA, et al (1995) Human fructose-1,6-bisphosphatase gene (FBP1):exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency. Genomics 27:520-525
9. El-Maghrabi MR, Pilkis J, Karker AJ, Colosia AD, D'Angelo G, Fraser BA, Pilkis SJ (1988) cDNA sequence of rat liver fructose-1,6-bisphosphatase and evidence for down-regulation of its mRNA by insulin. Proc Natl Acad Sci USA 85: 8430-8434
10. Emery JL, Howat AJ, Variend S, Vawter GW (1988) Investigation of inborn errors of metabolism in unexpected infant deaths. Lancet 8601:29-31
11. Gitzelmann R, Steinmann B, van den Berghe G (1995) Essential fructosuria hereditary fructose intolerance, and fructose-1,6-diphosphatase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. Vol 1. McGraw-Hill, New York, pp 416-424
12. Hengming K, Thorpe CM, Seaton BA, Lipscomb WN (1989) Structure refinement of fructose-1,6-bisphosphatase and its fructose-2,6-bisphosphatase complex at 2.8 Å resolution. J Mol Biol 212:513-539
13. Hommes FA, Campbell R, Steinhart C, Bowyer F (1985) Biochemical observation on a case of hepatic fructose-1,6-diphosphatase deficiency. J Inherit Metab Dis 8:169-173
14. Ito M, Kuroda Y, Kobashi H, Watanabe T, Takeda E, Toshima K, Miyao M (1984) Detection of heterozygotes of fructose-1,6-diphosphatase deficiency by measuring fructose-1,6-diphosphatase activity in their cultured peripheral lymphocytes. Clin Chim Acta 141:27-32
15. Kikawa Y, Inuzuka M, Jin BY, Kaji S, Yamamoto Y, Shigematsu Y, Nakai A, et al (1995) Identification of a genetic mutation in a family with fructose-1,6-bisphosphatase deficiency. Biochem Biophys Res Commun 210:797-804
16. Kikawa Y, Inuzuka M, Takano T, Shigematsu Y, Nakai A, Yamamoto Y, Jin BY, et al (1994) cDNA sequence encoding human fructose-1,6-bisphosphatase from monocytes, liver and kidney: application of monocytes to molecular analysis of human fructose-1,6-bisphosphatase deficiency. Biochem Biophys Res Commun 199:687-693
17. Kikawa Y, Takano T, Nakai A, Shigematsu Y, Sudo M (1993) Detection of heterozygotes for fructose-1,6-diphosphatase deficiency by measuring fructose-1,6-diphosphatase activity in monocytes cultured with calcitriol. Clin Chim Acta 215: 81-88
18. Kinugasa A, Kusunoki T, Iwashima A (1979) Deficiency of glucose-6-phosphate dehydrogenase found in a case of hepatic fructose-1,6-diphosphatase deficiency. Pediatr Res 13: 1361-1364
19. Liang JY, Zhang Y, Huang S, Lipscomb WN (1993) Allosteric transition of fructose-1,6-bisphosphatase. Proc Natl Acad Sci USA 90:2132-2136
20. Maniatis T, Fritsch EF, Sambrook J (1989) Molecular cloning: a laboratory manual, 2d ed. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
21. Mizunuma H, Tashima Y (1986) Characterization of rat muscle fructose-1,6-bisphosphatase. J Biochemistry 99:1781-1788
22. Nagai T, Yokoyama T, Hasegawa T, Tsuchiya Y, Matsuo N (1992) Fructose and glucagon loading in siblings with fructose-1,6-bisphosphatase deficiency in fed state. J Inherit Metab Dis 15:720-722
23. Nakai A, Shigematsu Y, Liu Y, Kikawa Y, Sudo M (1993) Urinary sugar phosphates and related organic acids in fructose-1,6-diphosphatase deficiency. J Inherit Metab Dis 16: 408-414
24. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphism using the polymerase chain reaction. Genomics 5: 874-879
25. Roger DT, Hiller E, Mitsock L, Orr E (1988) Characterization of the gene for fructose-1,6-bisphosphatase from Saccharomyces cerevisiae and Schizosaccharomyces pombe. J Biol Chem 263:6051-6057
26. Schryer J, Hommes FA (1975) Activities of fructose-1,6-bisphosphatase in human leukocytes. N Engl J Med 292:1298
27. Shin YS (1993) Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes. Clin Invest 71:115-118
28. Smith DB, Johnson KS (1988) Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase. Gene 67:31-40