The acute porphyrias

Lancet

Volumn 349, Issue 9065, 1997, Pages 1613-1617

  Elder, George H ^a   Hift, Richard J ^b   Meissner, Peter N ^b  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORPROMAZINE; COPROPORPHYRIN; HEMATIN; MESOPORPHYRIN; METOCLOPRAMIDE; PROCHLORPERAZINE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; BIOCHEMISTRY; CLINICAL FEATURE; HUMAN; MOLECULAR GENETICS; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL;

EID: 0030916157     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(96)09070-8     Document Type: Review

References (30)

1. Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CL, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1989: 1305-65.
2. Elder GH. Molecular genetics of disorders of haem biosynthesis. J Clin Pathol 1993; 46: 977-81.
3. Deybach J-C, Puy H. Porphobilinogen gene structure and molecular defects. J Bioenerg Biomembr 1995; 27: 197-205.
4. Puy H, Deybach J-C, Lamoril J, et al. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet (in press).
5. Chen C-H, Astrin KH, Lee G, Anderson KE, Desnick RJ. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. J Clin Invest 1994; 94: 1927-37.
6. Brownlie PD, Lambert R, Louie GV, et al. The three-dimensional structure of mutants or porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria. Protein Sci 1994; 3: 1644-50.
7. Dean G. The porphyrias: a story of inheritance and environment. London: Pitman, 1971.
8. Meissner PN, Dailey TA, Hift RJ, et al. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet 1996; 13: 95-97.
9. McColl KEL, Moore MR, Thompson GG, et al. Chester porphyria - biochemical studies of a new form of acute porphyria. Lancet 1985; ii: 796-99.
10. Moore MR, McColl KEL, Rimington C, Goldberg A. Disorders of porphyrin metabolism. New York: Plenum Press, 1987.
11. Mustajoki P, Koskelo P. Hereditary hepatic porphyrias in Finland. Acta Med Scand 1976; 200: 171-78.
12. Mustajoki P, Kauppinen R, Lannfelt L, Lilius L, Koistinen J. Frequency of low erythrocyte porphobilinogen deaminase activity in Finland. J Int Med 992; 231: 389-95.
13. Tishler PV, Woodward B, O'Connor J, et al. High prevalence of intermittent acute porphyria in a psychiatric patient population. Am J Psychiatry 1985; 142: 1430-36.
14. Whatley SD, Roberts AG, Elder GH. De-novo mutation and sporadic presentation of acute intermittent porphyria. Lancet 1995; 346: 1007-08.
15. Kauppinen R, Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine 1992; 71: 1-13.
16. Disler PB, Moore MR. Drug therapy in acute porphyrias. Clin Dermatol 1985; 3: 112-24.
17. Patience DA, Blackwood DHR, McColl KEL, Moore MR. Acute intermittent porphyria and mental illness - a family study. Acta Psych Scand 1994; 89: 262-67.
18. Buttery JE. Is the Watson-Schwartz screening method for porphobilinogen reliable? Clin Chem 1995; 41: 1670-71.
19. Elder GH, Smith SG, Smyth SJ. Laboratory investigation of the porphyrias. Ann Clin Biochem 1990; 27: 395-412.
20. Poh-Fitzpatrick MB. A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol 1980; 116: 543-47.
21. Bonkovsky HL. Advances in understanding and treating 'The little imitator', acute porphyria. Gastroenterology 1993; 105: 590-94.
22. Lindberg RLP, Porcher C, Grandchamp B, et al. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat Genet 1996; 12: 195-99.
23. Brodie MJ, Moore MR, Thompson GG, Goldberg A. The treatment of acute intermittent porphyria with laevulose. Clin Sci Mol Med 1977; 53: 365-71.
24. Herrick AL, McColl KEL, Moore MR, Cook A, Goldberg A. Controlled trial of haem arginate in acute hepatic porphyria. Lancet 1989; i: 1295-97.
25. Mustajoki P, Nordmann Y. Early administration of heme arginate for acute porphyric attacks. Arch Intern Med 1993; 153: 2004-08.
26. Dover SB, Moore MR, Fitzsimmons EJ, Graham A, McColl KEL. Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria. Gastroenterology 1993; 105: 500-06.
27. Anderson KE, Spitz IM, Bardin CW, Kappas A. A gonadotopin releasing hormone analogue prevents cyclical attacks of porphyria. Arch Intern Med 1990; 150: 1469-74.
28. Church SE, McColl KEL, Moore MR, Youngs GR. Hypertension and renal impairment as complications of acute porphyria. Nephrol Dial Transplant 1992; 7: 986-90.
29. Bengtsson NO, Hardell L, Porphyrias, porphyrins and hepatocellular cancer. BrJ Cancer 1986; 54: 115-17.
30. Kauppinen R, Mustajoki S, Pihlaja H, Peltonen L, Mustajoki P. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. Hum Mol Genet 1995; 4: 215-22.