ALAD porphyria

Seminars in Liver Disease

Volumn 18, Issue 1, 1998, Pages 95-101

  Sassa, Shigeru ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

Author keywords

ALA dehydratase; ALAD; ALAD porphyria; Porphyria; aminolevulinate dehydratase

Indexed keywords

PORPHOBILINOGEN SYNTHASE;

AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 9Q; ENZYME ACTIVITY; ENZYME BINDING; ENZYME SUBSTRATE; HEME SYNTHESIS; HUMAN; PORPHYRIA; PRIORITY JOURNAL; REVIEW; STEM CELL; TYROSINEMIA;

EID: 0031941533     PISSN: 02728087     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-1007145     Document Type: Review

References (38)

1. Kappas A, Sassa S, Galbraith RA, et al. The porphyrias. In Scriver CR, Beaudet AL, Sly WS, et al (eds). Metabolic and molecular basis of inherited disease, 7th ed. New York, Mc-Graw-Hill, 1995, pp 2103-2159
2. Wetmur JG, Bishop DF, Ostasiewicz L, et al Molecular cloning of a cDNA for human δ-aminolevulinate dehydratase. Gene 1986;43:123-130
3. Potluri VR, Astrin KH, Wetmur JG, et al. Human 5-aminolevulinate dehydratase: Chromosomal localization to 9q34 by in situ hybridization. Hum Genet 1987;76:236-239
4. Sassa S. δ-aminolevulinic acid dehydratase assay. Enzyme 1982; 28:133-145
5. Jordan PM, Seehra JS. Mechanism of action of δ-aminolevulinic acid dehydratase. Stepwise order of addition of the two molecules of δ-aminolevulinic acid in the enzyme synthesis of porphobilinogen. J Chem Soc Chem Commun 1980;240-242
6. Gibbs PN, Jordan PM. Identification of lysine at the active site of human 5-aminolaevulinate dehydratase. Biochem J 1986;236: 447
7. Granick JL, Sassa S, Kappas A. Some biochemical and clinical aspects of lead intoxication. In: Bodansky O, Latnei AL (eds). Advances in clinical chemistry New York, Academic Press, 1978, pp 287-339
8. Sassa S, Kappas A. Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of δ-aminolevulinic acid dehydratase activity by succinylacetone. J Clin Invest 1983;71: 625-634
9. Lindblad B, Lindstedt S, Steen G. On the genetic defects in hereditary tyrosinemia. Proc Natl Acad Sci USA 1977:74:4641-4645
10. Rank JM, Pascual-Leone A, Payne W, et al. Hematin therapy for the neurologic crisis of tyrosinemia. J Pediatr 1991;118:136-139
11. Guo GG, Gu M, Etlinger JD. 240-kDa proteasome inhibitor (CF-2) is identical to δ-aminolevulinic acid dehydratase J Biol Chem 1994;269:12399-12402
12. Piatigorsky J. The twelfth Frederick H. Verhoeff Lecture: gene sharing in the visual system. [Review]. Trans Am Ophthalmol 1993,91:283-297
13. Bishop TR, Miller MW, Beall J, et al Genetic regulation of δ-aminolevulinic dehydratase during erythropoiesis. Nucl Acids Res 1996;24:2511-2518
14. Kaya AH, Plewinska M, Wong DM, et al Human δ-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAs. Genomics 1994; 19:242-248
15. Granick S. The induction in vitro of the synthesis of δ-aminolevulinic acid synthetase in chemical porphyria: a response to certain drugs, sex hormones, and foreign chemicals. J Biol Chem 1966;241:1359-1375
16. Bird TD, Hamernyik P, Nutter JY, et al. Inherited deficiency of δ-aminolevulinic acid dehydratase. Am J Hum Genet 1979;31 662-668
17. Doss M, von Tiepermann R, Schneider J, et al. New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. Klin Wochenschr 1979;57: 1123-1127
18. 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;21:244-248
19. de Verneuil H, Doss M, Brusco N, et al. Hereditary hepatic porphyria with δ-aminolevulinate dehydratase deficiency: immunologic characterization of the non-catalytic enzyme Hum Genet 1985;69:174-177
20. Thunell S, Holmberg L, Lundgreen J Aminolevulinate dehydratase porphyria in infancy. A clinical and biochemical study J Clin Chem Clin Biochem 1987;25:5-14
21. Plewinska M, Thunell S, Holmberg L, et al. δ-aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. Am J Hum Genet 1991;49:167-174
22. 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: 599-606
23. Hassoun A, Verstraeten L, Mercelis R, et al. Biochemical diagnosis of an hereditary aminolaevulinate dehydratase deficiency in a 63-year-old man. J Clin Chem Clin Biochem 1989;27: 781-786
24. Mercelis R, Hassoun A, Verstraeten L, et al. Porphyric neuropathy and hereditary δ-aminolevulinic acid dehydratase deficiency in an adult. J Neurol Sci 1990;95-39-47
25. Ishida N, Fujita H, Noguchi T, et al. Message amplification phenotyping of an inherited δ-aminolevulinate dehydratase. deficiency in a family with acute hepatic porphyria. Biochem Biophys. Res Commun 1990;172:237-242
26. 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;89:1431-1437
27. Mitchell G, Larochelle J, Lambert M, et al. Neurologic crises in hereditary tyrosinemia. N Engl J Mcd 1990;322:432-437
28. Tschudy DP, Hess RA, Frykholm BD: Inhibition of δ-aminolevulinic acid dehydratase by 4,6-dioxoheptanoic acid. J Biol Chem 1981;256:9915-9923
29. Bonkovsky HL, Healey JF, Lincoln B, et al. Hepatic heme synthesis in a new model of experimental hemochromatosis: studies in rats fed finely divided elemental iron. Hepatology 1987;7: 1195-1203
30. 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;244:419-440
31. Fujita H, Koizumi A, Yamamoto M, et al. Inhibition of δ-aminolevulinate dehydratase in trichloroethylene-exposed rats, and the effects on heme regulation. Biochim Biophys Acta 1984; 800:1-10
32. Fujita H, Koizumi A, Hayashi N, et al. Reduced synthesis of δ-aminolevulinic dehydratase in styrene-treated rats Biochim Biophys Acta 1986;867:89-96
33. Sassa S, Fujita H, Kappas A Genetic and chemical influences on heme biosynthesis. In: Kotyk A, Skoda J, Paces V, et al (eds): Highlights of modern biochemistry. Utrecht, VSP International Science, 1989, pp 329-337
34. Doss M, Laubenthal F, Stoeppler M: Lead poisoning in inherited δ-aminolevulinic acid dehydratase deficiency. Int Arch Occup Environ Health 1984;54:55-63
35. Doss M, Benkmann HG, Goedde HW: δ-Aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency. Clin Genet 1986;30:191-198
36. Fujita H, Sassa S, Lundgren J, et al. Enzymatic defect in a child with hereditary hepatic porphyria due to homozygous δ-aminolevulinic acid dehydratase deficiency: immunochemical studies. Pediatrics 1987;80:880-885
37. Akagi R, Meguro K, Doss M, et al. 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
38. 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