Diagnosis and therapy of acute intermittent porphyria

Blood Reviews

Volumn 10, Issue 1, 1996, Pages 53-58

  Sassa, S ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; AMINOLEVULINIC ACID; BARBITURIC ACID DERIVATIVE; CYTOCHROME P450; GONADORELIN DERIVATIVE; HEMATIN; HEME; HEME DERIVATIVE; HEME OXYGENASE; PORPHOBILINOGEN; PORPHOBILINOGEN DEAMINASE; PORPHYRIN; STEROID;

ABDOMINAL PAIN; ACUTE INTERMITTENT PORPHYRIA; CLINICAL FEATURE; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; DRUG INDUCED DISEASE; ENZYME ASSAY; ENZYME INDUCTION; ENZYME STRUCTURE; ERYTHROID CELL; FECES; GENE MUTATION; GENE STRUCTURE; HEME SYNTHESIS; HUMAN; INTRANASAL DRUG ADMINISTRATION; INTRAVENOUS DRUG ADMINISTRATION; LIVER METABOLISM; MENSTRUAL CYCLE; MOLECULAR CLONING; NEUROLOGIC DISEASE; NUTRITIONAL STATUS; PHOTOSENSITIVITY; PRIORITY JOURNAL; REVIEW; STRESS; URINARY EXCRETION;

EID: 0029873549     PISSN: 0268960X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0268-960X(96)90020-X     Document Type: Article

References (24)

1. 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.
2. Wang AL, Arrendondo-Vega FX, Giampietro PF, Smith M, Anderson WF, Desnick RJ. Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23-11qter. Proc Natl Acad Sci USA 1981; 78: 5734.
3. Yoo HW, Warner CA, Chen CH, Desnick RJ. Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics 1993; 15: 21.
4. Brownlie PD, Lambert R, Louie GV et al. The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria. [Review]. Protein Science 1994; 3: 1644.
5. Mustajoki P, Kauppinen R, Lannfelt L, Koistinen J. Frequency of low porphobilinogen deaminase activity in Finland. J Intern Med 1992; 231: 389.
6. Moore MR, McColl KEL, Rimington C, Goldberg A. Disorders of Porphyrin Metabolism. New York, NY: Plenum, 1987.
7. Nordmann Y, Deybach J-C. Human hereditary porphyrias. In: Dailey HA, ed. Biosynthesis of Heme and Chlorophylls. New York, NY: McGraw-Hill, 1990: 491.
8. McColl KEL, Wallace AM et al. Alterations in haem biosynthesis during the human menstrual cycle: studies in normal subjects and patients with latent and active acute intermittent porphyria. Clin Sci 1982; 62: 183.
9. Welland FH, Hellman ES, Gaddis EM, Collins A, Hunter GW Jr, Tschudy DP. Factors affecting the excretion of porphyrin precursors by patients with acute intermittent porphyria. I. The effects of diet. Metabolism 1964; 13: 232.
10. Levit EJ, Nodine JH, Perloff WH. Progesterone-induced porphyria. Am J Med 1957; 22: 831.
11. Kappas A. Estrogens and the liver. Gastroenterology 1967; 52: 113.
12. Sassa S, Kappas A. Lack of effect of pregnancy or hematin therapy on erythrocyte porphobilinogen deaminase activity in acute intermittent porphyria [letter]. N Engl J Med 1989; 321: 192.
13. Felsher BF, Redeker AG. Acute intermittent porphyria: effect of diet and griseofulvin. Medicine 1967; 46: 217.
14. Robert TL, Varella L, Meguid MM. Nutrition management of acute intermittent porphyria. Nutrition 1994; 10: 551.
15. Song CS, Bonkowsky HL, Tschudy DP. Salicylamide metabolism in acute intermittent porphyria. Clin Pharmacol Ther 1973; 15: 431.
16. Anderson KE, Alvares AP, Sassa S, Kappas A. Studies in porphyria. V. Drug oxidation rates in hereditary hepatic porphyria. Clin Pharmacol Ther 1976; 19: 47.
17. Ostrowski J, Kostrzewska E, Michalak T, Zawirska B, Medrzejewski W, Gregor A. Abnormalities in liver function and morphology and impaired aminopyrine metabolism in hereditary hepatic porphyrias. Gastroenterology 1983; 85: 1131.
18. Mauzerall D, Granick S. The occurrence and determination of δ-aminolevulinic acid and porphobilinogen in urine. J Biol Chem 1956; 219: 435.
19. Grandchamp B, Picat C, de Rooij F et al. A point mutation G A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria. Nucleic Acids Res 1989; 17: 6637.
20. Andersson C, Thunell S, Floderus Y et al. Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods. J Intern Med 1995; 237: 301.
21. Mustajoki P, Tenhunen R, Pierach C, Volin L. Heme in the treatment of porphyrias and hematological disorders. Semin Hematol 1989; 26: 1.
22. Anderson KE, Spitz IM, Sassa S, Bardin CW, Kappas A. Prevention of cyclical attacks of acute intermittent porphyria with a long-acting agonist of luteinizing hormone-releasing hormone. N Engl J Med 1984; 311: 643.
23. Galbraith RA, Kappas A. Pharmacokinetics of tin-mesoporphyrin in man and the effects of tin-chelated porphyrins on hyperexcretion of heme pathway precursors in patients with acute inducible porphyria. Hepatology 1989; 9: 882.
24. Sassa S, Kappas A. The porphyrias. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood. Philadelphia, PA: W B Saunders, 1993: 451.