Highly heterogeneous nature of δ-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria

Blood

Volumn 97, Issue 10, 2001, Pages 2972-2978

  Maruno, Motoyoshi ^{a,b,c,d,e,f,g}   Furuyama, Kazumichi ^{a,b,c,d,e,f,g}   Akagi, Reiko ^{a,b,c,d,e,f,g}   Horie, Yutaka ^{a,b,c,d,e,f,g}   Meguro, Kuniaki ^{a,b,c,d,e,f,g}   Garbaczewski, Luba ^{a,b,c,d,e,f,g}   Chiorazzi, Nicholas ^{a,b,c,d,e,f,g}   Doss, Manfred O ^{a,b,c,d,e,f,g}   Hassoun, Alexandre ^{a,b,c,d,e,f,g}   Mercelis, Rudolf ^{a,b,c,d,e,f,g}   Verstraeten, Luc ^{a,b,c,d,e,f,g}   Harper, Pauline ^{a,b,c,d,e,f,g}   Floderus, Ylva ^{a,b,c,d,e,f,g}   Thunell, Stig ^{a,b,c,d,e,f,g}   Sassa, Shigeru ^{a,b,c,d,e,f,g}  

^a ROCKEFELLER UNIVERSITY   (United States)

^b OKAYAMA PREFECTURAL UNIVERSITY   (Japan)

^c Department of Obstetrics Gynecology   (United States)

^d PHILIPPS UNIVERSITY MARBURG   (Germany)

^e UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME ANTIBODY; GLUTATHIONE TRANSFERASE; HYBRID PROTEIN; PORPHOBILINOGEN SYNTHASE;

ADOLESCENT; ADULT; AFFINITY CHROMATOGRAPHY; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; COLUMN CHROMATOGRAPHY; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYME PURIFICATION; ENZYME STRUCTURE; GENE MUTATION; HUMAN; IMMUNOASSAY; MALE; NEWBORN; PHENOTYPE; PORPHYRIA; PREDICTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; STRUCTURE ANALYSIS;

EID: 0035874502     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V97.10.2972     Document Type: Article

References (44)

1. Sassa S. δ-aminolevulinic acid dehydratase assay. Enzyme. 1982;28:133.
2. Sassa S. ALAD porphyria. In: Berk PD, ed. Seminars in Uver Disease. New York, NY: Thieme; 1998:95.
3. Ishida N, Fujita H, Fukuda Y, et al. Cloning and expression of the defective genes from a patient with δ-aminolevulinate dehydratase porphyria. J Clin Invest. 1992;89:1431.
4. Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ. δ-aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. Am J Hum Genet. 1991;49:167.
5. Wolff C, Piderit F, Armas-Merino R. Deficiency of porphobilinogen synthase associated with acute crisis: diagnosis of the first two cases in Chile by laboratory methods. Eur J Clin Chem Clin Biochem. 1992;29:313.
6. Muraoka A, Suehiro I, Fujii M, Murakami K. delta-aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman. Kobe J Med Sci. 1995;41:23.
7. Doss M, von Tiepermann R, Schneider J, Schmid H. New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. Klin Wochenschr. 1979;57:1123.
8. Thunell S, Holmberg L, Lundgren J. Aminolevulinate dehydratase porphyria in infancy: a clinical and biochemical study. J Clin Chem Clin Biochem. 1987;25:5.
9. Hassoun A, Verstraeten L, Mercelis R, Martin J-J. Biochemical diagnosis of an hereditary aminolaevulinate dehydratase deficiency in a 63-year-old man. J Clin Chem Clin Biochem. 1989;27:781.
10. Harper P, Floderus Y, Holme E, Thunell S. Twelve per cent erythrocyte aminolevulinate dehydratase activity in a healthy child [abstract]. Porphyrins and Porphyrias 1997, Hamburg, Germany.
11. Akagi R, Yasui Y, Harper P, Sassa S. A novel mutation of δ-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity. Br J Haematol. 1999;106:931.
12. Akagi R, Meguro K, Doss M, Sassa S. Molecular studies of the gene defect of ALA dehydratase deficiency porphyria: a new point mutation identified in a second German patient. Porphyrins 1992;1:267-272.
13. Shimizu R, Akagi R, Meguro K, Doss M, Sassa S. Molecular studies of the gene defect of δ-aminolevulinate dehydratase deficiency porphyria (ADP): a new defect identified in the second German patient [abstract]. Porphyrins 1998;7:307.
14. Granick JL, Sassa S, Granick S, Levere RD, Kappas A. Studies in lead poisoning, II: correlation between the ratio of activated to inactivated δ-aminolevulinic acid dehydratase of whole blood and the blood lead level. Biochem Med. 1973;8:149.
15. Doss M, Laubenthal F, Stoeppler M. Lead poisoning in inherited δ-aminolevulinic acid dehydratase deficiency. Int Arch Occup Environ Health. 1984;54:55.
16. Koizumi A, Fujita H, Sadamoto T, Yamamoto M, Kumai M, Ikeda M. Inhibition of δ-aminolevulinic acid dehydratase by trichloroethylene. Toxicology. 1984;30:93.
17. Fujita H, Koizumi A, Hayashi N, Ikeda M. Reduced synthesis of δ-aminolevulinate dehydratase in styrene-treated rats. Biochim Biophys Acta. 1986;867:89.
18. Fujita H, Ishihara N. Reduction of δ-aminolevulinate dehydratase concentration by bromobenzene in rats. Br J Ind Med. 1988;45:640.
19. Sassa S, Fujita H, Kappas A. Genetic and chemical influences on heme biosynthesis. In: Kotyk A, Skoda J, Paces V, Kostka V, eds. Highlights of Modern Biochemistry. Utrecht, The Netherlands: VSP International Science Publishers; 1989:329.
20. Smith DB, Johnson KS. Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase. Gene. 1988;67:31.
21. Rivas S, Bolland S, Cabezon E, Goni FM, de la Cruz F. TrwD, a protein encoded by the IncW plasmid R388, displays an ATP hydrolase activity essential for bacterial conjugation. J Biol Chem. 1997;272:25583.
22. Yacoub A, Kelley MR, Deutsch WA. Drosophila ribosomal protein PO contains apurinic/apyrimidinic endonuclease activity. Nucl Acids Res. 1996;24:4298.
23. Kakonen SM, Hellman J, Pettersson K, Lovgren T, Karp M. Purification and characterization of recombinant osteocalcin fusion protein expressed in Escherichia coli. Protein Expr Purif. 1996;8:137.
24. Kanno H, Fujii H, Miwa S. Expression and enzymatic characterization of human glucose phosphate isomerase (GPI) variants accounting for GPI deficiency. Blood Cells Mol Dis 1998;24:54.
25. Sassa S, Fujita H, Doss M, et al. Hereditary hepatic porphyria due to homozygous δ-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes. Eur J Clin Invest. 1991;21:244.
26. de Verneuil H, Doss M, Brusco N, Beaumont C, Nordmann Y. Hereditary hepatic porphyria with δ-aminolevulinate dehydratase deficiency: immunologic characterization of the non-catalytic enzyme. Hum Genet. 1985;69:174.
27. Gross D, Sassa S, Deybach J-C, Nordmann Y, Frank M, Doss MO. 5-Aminolevulinic acid dehydratase (ALAD) deficiency porphyria: a 20 year clinical and biochemical follow up. Clin Chem. 1998;44:1892-1896.
28. Mercelis R, Hassoun A, Verstraeten L, De Bock R, Martin J-J. Porphyric neuropathy and hereditary δ-aminolevulinic acid dehydratase deficiency in an adult. J Neurol Sci. 1990;95:39.
29. Akagi R, Nishitani C, Harigae H, et al. Molecular analysis of δ-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria. Blood. 2000;96:3618-3623.
30. Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds, The Metabolic and Molecular Basis of Inherited Disease. New York, NY: McGraw-Hill; 1995:2103.
31. Thunell S, Henrichson A, Floderus Y, et al. Liver transplantation in a boy with acute porphyria due to aminolaevulinate dehydratase deficiency. Eur J Clin Chem Clin Biochem. 1992;30:599.
32. Horie Y, Meguro K, Fujita H, et al. Molecular analysis of the gene defects of ALA dehydratase deficiency porphyria developed in an elderly patient. Porphyrins. 1993;2;143-148,
33. Furuyama K, Fujita H, Nagai T, et al. Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation of the erythroid-specific 5-aminolevulinate synthase gene. Blood. 1997;90:822-830.
34. Chang CS, Sassa S, Doyle D. An immunological study of δ-aminolevulinic acid dehydratase: specificity consistent with the phylogeny of species. Biochim Biophys Acta. 1984;797:297.
35. Haid A, Suissa M. Immunochemical identification of membrane proteins after sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Method Enzymol. 1983;96:192.
36. Akagi R, Prchal JT, Eberhart CE, Sassa S. An acquired acute hepatic porphyria: a novel type of δ-aminolevulinate dehydratase inhibition. Clin Chim Acta. 1992;212:79.
37. Nandi DL, Shemin D. Delta-aminolevulinic acid dehydratase of Rhodopseudomonas spheroides, II: association to polymers and dissociation to subunits. J Biol Chem. 1968;243:1231.
38. Erskine PT, Senior N, Awan S, et al. X-ray structure of 5-aminolaevulinate dehydratase, a hybrid aldolase. Nat Struct Biol. 1997;4:1025.
39. Bonkovsky HL, Healey JF, Lincoln B, Bacon BR, Bishop DF, Elder GH. Hepatic heme synthesis in a new model of experimental hemochromatosis: studies in rats fed finely divided elemental iron. Hepatology. 1987;7:1195.
40. Sassa S, Granick S, Kappas A. Effect of lead and genetic factors on heme biosynthesis in the human red cell. Ann N Y Acad Sci. 1975;244:419.
41. Fujita H, Koizumi A, Yamamoto M, Kumai M, Sadamoto T, Ikeda M. Inhibition of δ-aminolevulinate dehydratase in trichloroethylene-exposed rats, and the effects on heme regulation. Biochim Biophys Acta. 1984;800:1.
42. Wetmur JB, Bishop DF, Cantelmo C, Desnick RJ. Human δ-aminolevulinate dehydratase: nucleotide sequence of a full length cDNA clone. Proc Natl Acad Sci U S A. 1986;83:7703.
43. Wetmur JG, Kaya AH, Plewinska M. Molecular characterization of the human δ-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning. Am J Hum Genet. 1991;49:757.
44. Doss M, Benkmann HG, Goedde HW. δ-aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency. Clin Genet. 1986;30:191.