5-Aminolevulinic acid dehydratase deficiency porphyria: A twenty-year clinical and biochemical follow-up

Clinical Chemistry

Volumn 44, Issue 9, 1998, Pages 1892-1896

  Gross, Ulrich ^a   Sassa, Shigeru ^b   Jacob, Karl ^c   Deybach, Jean Charles ^d   Nordmann, Yves ^d   Frank, Margareta ^a   Doss, Manfred O ^a  

^a UNIVERSITY HOSPITAL MARBURG   (Germany)

^b ROCKEFELLER UNIVERSITY   (United States)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d HÔPITAL LOUIS MOURIER   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PORPHOBILINOGEN SYNTHASE;

ARTICLE; ENZYME ACTIVITY; ENZYME KINETICS; GENE MUTATION; HUMAN; HUMAN CELL; PORPHYRIA; URINE LEVEL;

EID: 0031783271     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/44.9.1892     Document Type: Article

References (25)

1. Conner EA, Fowler BA. Biochemical and immunological properties of hepatic δ-aminolevulinic acid dehydratase in channel catfish (Ictalurus punctatus). Aquat Toxicol 1994;28:37-52.
2. Bird TD, Hammernyik P, Nutter JY, Labbe RF. Inherited deficiency of δ-aminolevulinic acid dehydratase. Am J Hum Genet 1979;31: 662-8.
3. Doss M, v Tiepermann R, Schneider J, Schmid H. New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. Klin Wochenschr 1979;57: 1123-7.
4. Doss M, Benkmann HG, Goedde HW. δ-aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency. Clin Genet 1986;30:191-8.
5. Ishida N, Fujita H, Fukuda Y, Noguchi T, Doss M, Kappas A, Sassa S. Cloning and expression of the defective genes from a patient with δ-aminolevulinate dehydratase porphyria. J Clin Investig 1992;89:1431-7.
6. 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; 1:267-72.
7. Geisse S, Brüller HJ, Doss M. Porphobilinogen synthase (δ-aminolevulinic acid dehydratase) activity in human erythrocytes: reactivation by zinc and dithiothreitol depending on influence of storage. Clin Chim Acta 1983;135:239-45.
8. Doss MO. Porphyrins and porphyrin precursors. In: Curtius HC, Roth M, eds. Clinical biochemistry-principles and methods. New York: W. de Gruyter, 1974;2:1323-71.
9. Jacob K, Doss MO. Composition of urinary coproporphyrin isomers I-IV in human porphyrias. Eur J Clin Chem Clin Biochem 1993;31: 617-24.
10. Meyer HD, Jacob K, Vogt W. Ion-pair reversed-phase high-performance liquid chromatographic determination of porphyrins from red blood cells. Chromatographia 1982;16:190-1.
11. Doss MO. Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies. Clin Genet 1989;35:146-51.
12. Freesemann AG, Hofweber K, Doss MO. Coexistence of deficiencies of uroporphyrinogen III synthase and decarboxylase in a patient with congenital erythropoietic porphyria and in his family. Eur J Clin Chem Clin Biochem 1997;35:35-9.
13. Nordmann Y, Grandchamp B. Hereditary coproporphyria. Demonstration of a genetic defect in coproporphyrinogen metabolism. In: Doss M, ed. Diagnosis and therapy of porphyrias and lead intoxication. Berlin: Springer-Verlag, 1978:77-81.
14. Deybach JC, de Verneuil H, Nordmann Y. The inherited enzymatic defect in porphyria variegata. Hum Genet 1981;58:425-8.
15. Deybach JC, da Silva V, Pasqier Y, Nordmann Y. Ferrochelatase in human erythropoietic protoporphyria: the first case of a homozygous form of the enzyme deficiency. In: Nordmann Y, ed. Porphyrins and porphyrias 1986;134:163-73.
16. Doss M. Metabolism of δ-aminolaevulinic acid and porphobilinogen in human erythrocytes in acute intermittent porphyria. Enzyme (Basel) 1973;16:343-53.
17. Sassa S, Fujita H, Doss M, Hassoun A, Verstraeten L, Mercelis R, Kappas A. Hereditary hepatic porphyria due to homozygous δ-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes. Eur J Clin Investig 1991;21:244-8.
18. Bradford MM. A rapid and sensitive method for quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 1976;72:248-54.
19. Sieg I, Doss MO, Kandels H, Schneider J. Effect of alcohol on δ-aminolevulinic acid dehydratase and porphyrin metabolism in man. Clin Chim Acta 1991;202:211-8.
20. Doss MO. Porphyrinurias and occupational disease. Ann N Y Acad Sci 1987;514:204-18.
21. de Verneuil H, Doss M, Brusco N, Beaumont C, Nordmann Y. Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: immunologic characterization of the non-catalytic enzyme. Hum Genet 1985;69:174-7.
22. Thunell S, Holmberg L, Lundgren J. Aminolaevulinate dehydratase porphyria in infancy: a clinical and biochemical study. J Clin Chem Clin Biochem 1987;25:5-14.
23. Hassoun A, Verstraeten L, Mercelis R, Martin JJ. Biochemical diagnosis of an hereditary aminolaevulinate dehydratase deficiency in a 63-year old man. J Clin Chem Clin Biochem 1989;27: 781-6.
24. 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;49:167-74.
25. Thunell S, Henrichson A, Floderus Y, Groth CG, Eriksson BG, Barkholt L, 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.