Glucose phosphate isomerase deficiency: Biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia

European Journal of Pediatrics

Volumn 156, Issue 8, 1997, Pages 605-609

  Huppke, P ^a   Wunsch D ^a   Pekrun, A ^a   Kind, R ^b   Winkler, H ^b   Schroter W ^a   Lakomek, M ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b MAX PLANCK INSTITUTE FOR BIOPHYSICAL CHEMISTRY   (Germany)

Author keywords

Enzyme mutants; Glucosephosphate isomerase; Haemolytic anaemia

Indexed keywords

2,3 DIPHOSPHOGLYCERIC ACID; ADENOSINE TRIPHOSPHATE; AMINO ACID; ARGININE; BILIRUBIN; CYSTEINE; GLUCOSE 6 PHOSPHATE; GLUCOSE 6 PHOSPHATE ISOMERASE; HEMOGLOBIN; PROTEIN; RNA; TRYPTOPHAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BLOOD TRANSFUSION; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; GEL ELECTROPHORESIS; GENE; HEMOLYTIC ANEMIA; HUMAN; INTRON; MALE; MOLECULAR GENETICS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVIEW; SPLENECTOMY;

EID: 0030744663     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050674     Document Type: Review

References (32)

1. Baronciani L, Zanella A, Bianchi P, Alfinito F, Iolascon A, Tannoia N, Beutler E, Sirchia G (1995) Study of the molecular defects in glucose phosphate isomerase (GPI) deficient patients affected by chronic hemolytic anemia. Blood 10:134a
2. Baughan MA, Valentine WN, Paglia DE, Ways PO, Simson ER, DeMarsh QB (1968) Hereditary hemolytic anemia associated with glucose phosphate isomerase (GPI) deficiency. A new enzyme defect of human erythozytes. Blood 32:236-249
3. Beutler E, Blume KG, Kaplan JC, Löhr GW, Ramot B, Valentine WN (1977) International committee for standardization in haematology (ICSH): Recommended methods for red cell enzyme analysis. Br J Haematol 35:331-340
4. Chaput M, Claes V, Portetelle D, Cludts I, Cravador A, Burny A, Gras H, Tartar A (1988) The neurotrophic factor neuroleukin is 90% homologous with phosphohexose isomerase. Nature 332:454-457
5. Dacie JV, Lewis SM (1975) Practical haematology, 5th edn. Churchill Livingstone, Edinburgh
6. Eadie GS (1942) The inhibition of cholinesterase by physostigmine and prostigmine. J Biol Chem 146:85-93
7. Ericson H, Verdier CH de (1972) Modified method for the determination of 2.3-diphosphoglycerate in erythrocytes. Scand J Clin Lab Invest 29:85-90
8. Faik P, Walker JH, Redmill AM, Morgan MJ (1988) Mouse glucose-6-phosphate isomerase and neuroleukin have identical 3′ sequences. Nature 332:455-457
9. Fujii H, Kanno H, Miwa S (1994) Identification of glucose phosphate isomerase gene mutations in two japanese families associated with hereditary hemolytic anemia. Blood 84: No.10:544a
10. Gurney ME (1987) Genebank, release 57, accession no. K03515
11. Gurney ME (1988) Reply to Faik et al. Nature 332:457-458
12. Gurney ME, Heinrich SP, Lee MR, Yin HS (1986) Molecular cloning and expression of neuroleukin, a neurotrophic factor for spinal and sensory neurons. Science 234:566-574
13. Hill AV (1913) The combination of hemoglobin with oxygen and with carbon monoxide. Biochem J7:471-480
14. Hofstee DH, Dixon M, Webb EC (1959) Non-inverted versus inverted plots in enzyme kinetics. Nature 184:1296-1298
15. International Committee for Standardization in Haematology (ICSH) (1979) Recommended methods for characterisation of red cell pyruvate kinase variants. Br J Haematol 43:275-286
16. Lakomek M, Winkler H, De Maeyer G, Schröter W (1989) On the diagnosis of enzyme erythrocyte defects in the presence of high reticulocyte counts. Br J Haematol 72:445-451
17. Lakomek M, Neubauer B, Lühe A von d, Hoch G, Winkler H, Schröter W (1992) Erythrocyte pyruvate kinase deficiency: Relations of residual enzyme activity, altered regulation of defective enzymes and concentrations of high-energy phosphates with the severity of clinical manifestation. Eur J Haematol 49:82-92
18. Lineweaver H, Burke D (1934) The determination of enzyme dissociation constants. J Am Chem Soc 56:658-666
19. Marchand M, Kooystra U, Wierenga RK, Lambeir AM, Beeumen JV, Opperdoes KR, Michels PAM (1989) Glucosephosphate isomerase from Trypanosoma brucei. Cloning and characterization of the gene and analysis of the enzyme. Eur J Biochem 184:455-464
20. McMorris FA, Chen TR, Ricciuti F, Tischfield J, Creagan R, Ruddle FH (1973) Chromosome assignments in man of the genes for two hexosephosphate isomerase. Science (Wash. DC) 179:1129-1131
21. Minakami S, Suzuki C, Saito T, Yoshikawa H (1965) Determination of the glycolytic intermediates in human erythrocytes. J Biochem 58:543-550
22. Neubauer BA, Eber SW, Lakomek M, Gahr M, Schröter W (1990) Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucose phosphate isomerase deficiency. Acta Haematol 83:206-210
23. Ravindranath Y, Paglia DE, Warrier I, Valentine W, Nakatani M, Brockway RA (1987) Glucose phosphate isomerase deficiency as a cause of hydrops fetalis. N Engl J Med 316: 258-261
24. Scatchard G (1949) The attractions of proteins for small molecules and ions. Ann NJ Acad Sci 51:660-672
25. Schröter W, Koch HH, Wonneberger B, Kalinowsky W, Arnold A, Blume KG, Hüther W (1974) Glucosephosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: A new variant (type Nordhorn) I. Clinical and genetic studies. Pediatr Res 8:18-25
26. Schröter W, Eber SW, Bardosi A, Gahr M, Gabriel M, Sitzmann FC (1985) Generalised glucose phosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function. Eur J Pediatr 144:301-305
27. Tekamp-Olsen P, Najarian R, Burke RL (1988) The isolation, characterization and nucleotide sequence of the phosphoglucoisomerase gene of Saccharomyces cerevisiae. Gene (Amst) 73:153-161
28. Walker JIH, Layton DM, Bellingham AJ, Morgan MJ, Faik P (1993) DNA sequence abnormalities in human glucose-6-phosphate isomerase deficiency. Hum Mol Genet 2: 327-329
29. Walker JIH, Morgan MJ, Faik P (1995) Structure and organization of the human glucose phosphate isomerase gene (GPI). Genomics 29:261-265
30. Xu W, Beutler E (1994) The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. J Clin Invest 94:2326-2329
31. Xu W, Lee P, Beutler E (1995) Human glucose phosphate isomerase: exon mapping and gene structure. Genomics 29:732-739
32. Zanella A, Izzo C, Rebulla P, Perroni L, Mariani M, Canestri C, Sansone G, Sirchia G (1980) The first stable variant of erythrocyte glucose phosphate isomerase associated with severe hemolytic anemia. Am J Hematol 9:1-11