Brief report: Inherited metabolic myopathy and hemolysis due to a mutation in aldolase A

New England Journal of Medicine

Volumn 334, Issue 17, 1996, Pages 1100-1104

  Kreuder, Joachim ^a   Borkhardt, Arndt ^a   Repp, Reinald ^a   Pekrun, Arnulf ^b   Göttsche, Barbara ^a   Gottschalk, Urda ^b   Reichmann, Heinz ^c   Schachenmayr, Walter ^a   Schlegel, Kurt ^a   Lampert, Fritz ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FRUCTOSE BISPHOSPHATE ALDOLASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; EXERCISE TOLERANCE; GENE MUTATION; GLYCOLYSIS; HEMOLYTIC ANEMIA; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MYOPATHY; PRIORITY JOURNAL; RHABDOMYOLYSIS;

ADENOSINE TRIPHOSPHATE; BASE SEQUENCE; CHILD, PRESCHOOL; ERYTHROCYTES; FRUCTOSE-BISPHOSPHATE ALDOLASE; HEMOLYSIS; HUMANS; MALE; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; MUSCLE FATIGUE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; POINT MUTATION;

EID: 15844367096     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199604253341705     Document Type: Article

References (25)

1. DiMauro S, Tsujino S Nonlysosomal glycogenoses. In: Engel AG, Franzini-Armstrong C, eds. Myology. 2nd ed. New York. McGraw-Hill, 1994:1554-76
2. Tanaka KR, Paglia DE. Pyruvate kinase and other enzymopathies of the erythrocyte In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds The metabolic and molecular bases of inherited disease 7th ed. Vol. 3. New York: McGraw-Hill, 1995:3485-511
3. Gamblin SJ, Davies GJ, Grimes JM, Jackson RM, Littlechild JA, Watson HC. Activity and specificity of human aldolases J Mol Biol 1991;219.573-6.
4. Miwa S, Fujii H, Tani K, et al Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a Japanese family. Am J Hematol 1981;11:425-37.
5. Beutler E, Scott S, Bishop A, Margolis N, Matsumoto F, Kuhl W Red cell aldolase deficiency and hemolytic anemia: a new syndrome Trans Assoc Am Physicians 1973;86.154-66.
6. Dubowitz V. Muscle biopsy a practical approach 2nd ed. London: Bailliere Tindall, 1985:28-40.
7. Reichmann H, Srihari T, Pette D Ipsi- and contralateral fibre transformations by cross-reinnervation: a principle of symmetry. Pflugers Arch 1983; 397:202-8.
8. Beutler E, Blume KG, Kaplan JC, Löhr GW, Ramot B, Valentine WN International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis Br J Haematol 1977;35:331-40
9. Miwa S, Luzzatto L, Rosa R, et al International Committee for Standardization in Haematology. recommended methods for an additional red cell enzyme (pyrimidine 5′-nucleotidase) assay and the determination of red cell adenosine-5′-triphosphate, 2,3-disphosphoglycerate and reduced glutathione Clin Lab Haematol 1989;11:131-8.
10. Beutler E The glutathione instability of drug-sensitive red cells: a new method for the in vitro detection of drug sensitivity. J Lab Clin Med 1957; 49:84-95.
11. Schröter W, Brittinger G, Zimmerschmitt E, König E, Schrader D. Combined glucosephosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of the erythrocytes, a new haemolytic syndrome. Br J Haematol 1971;20:249-61.
12. Rosa R, George C, Fardeau M, Calvin MC, Rapin M, Rosa J A new case of phosphoglycerate kinase deficiency. PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. Blood 1982;60.84-91.
13. Susor WA, Penhoet E, Rutter WJ. Fructose-diphosphate aldolase, pyruvate kinase, and pyridine nucleotide-linked activities after electrophoresis. Methods Enzymol 1975;41:66-73
14. Borkhardt A, Repp R, Haupt E, et al. Molecular analysis of MLL-1/AF4 recombination in infant acute lymphoblastic leukemia. Leukemia 1994;8:549-53.
15. Chomczynski P, Sacchi N Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162:156-9.
16. Sakakibara M, Mukai T, Hori K. Nucleotide sequence of a cDNA clone for human aldolase: a messenger RNA in the liver Biochem Biophys Res Commun 1985;131:413-20.
17. Sauger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 1977;74:5463-7.
18. Lakomek M, Schröter W, De Maeyer D, Winkler H. On the diagnosis of erythrocyte enzyme defects in the presence of high reticulocyte counts. Br J Haematol 1989;72:445-51.
19. Kukita A, Yoshida MC, Fukushige S, et al. Molecular gene mapping of human aldolase A (ALDOA) gene to chromosome 16. Hum Genet 1987,76: 20-6.
20. Malek AA, Hy M, Honegger A, Rose K, Brenner-Holzach O. Fructose-1,6-bisphosphate from Drosophila melanogaster: primary structure analysis, secondary structure prediction, and comparison with vertebrate aldolases. Arch Biochem Biophys 1988;266.10-31.
21. Gamblin SJ, Cooper B, Millar JR, Davies GJ, Littlechild JA, Watson HC The crystal structure of human muscle aldolase at 3 0 A resolution. FEBS Lett 1990;262:282-6. [Erratum, FEBS Lett 1990;264:159.]
22. Beernink PT, Tolan DR. Subunit interface mutants of rabbit muscle aldolase form active dimers Protein Sci 1994;3:1383-91.
23. Miller DR. Hemolytic anemias: metabolic defects. In: Miller DR, ed. Blood diseases of infancy and childhood: in the tradition of C.H. Smith. 6th ed. St. Louis: C.V. Mosby, 1989:294-357.
24. Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K. Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. Proc Natl Acad Sci U S A 1987;84:8623-7
25. Valentine WN, Paglia DE. Erythrocyte enzymopathies, hemolytic anemia, and multisystem disease: an annotated review Blood 1984;64:583-91.