Skip to main content
Journal of the Royal Society of Medicine logoLink to Journal of the Royal Society of Medicine
. 1983 May;76(5):386–392. doi: 10.1177/014107688307600512

Pathogenesis and treatment of acute intermittent porphyria: discussion paper.

A C Laiwah, A Goldberg, M R Moore
PMCID: PMC1439174  PMID: 6864706

Full text

PDF

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Albers J. W., Robertson W. C., Jr, Daube J. R. Electrodiagnostic findings in acute porphyric neuropathy. Muscle Nerve. 1978 Jul-Aug;1(4):292–296. doi: 10.1002/mus.880010405. [DOI] [PubMed] [Google Scholar]
  2. BERLIN L., COTTON R. Gastro-intestinal manifestations of porphyria. Am J Dig Dis. 1950 Apr;17(4):110–114. doi: 10.1007/BF03004917. [DOI] [PubMed] [Google Scholar]
  3. Beattie A. D., Moore M. R., Goldberg A., Ward R. L. Acute intermittent porphyria: response of tachycardia and hypertension to propranolol. Br Med J. 1973 Aug 4;3(5874):257–260. doi: 10.1136/bmj.3.5874.257. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Becker D. M., Kramer S. The neurological manifestations of porphyria: a review. Medicine (Baltimore) 1977 Sep;56(5):411–423. doi: 10.1097/00005792-197709000-00003. [DOI] [PubMed] [Google Scholar]
  5. Becker D. M., Kramer S., Viljoen J. D. Delta-aminolevulinic acid uptake by rabbit brain cerebral cortex. J Neurochem. 1974 Nov;23(5):1019–1023. doi: 10.1111/j.1471-4159.1974.tb10754.x. [DOI] [PubMed] [Google Scholar]
  6. Biagini R., Tignani R., Fifi A. R., Nappini L. Aucte intermittent porphyria and epilepsy. Arch Dis Child. 1979 Aug;54(8):644–645. doi: 10.1136/adc.54.8.644. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Bonkowsky H. L., Sinclair P. R., Emery S., Sinclair J. F. Seizure management in acute hepatic porphyria: risks of valproate and clonazepam. Neurology. 1980 Jun;30(6):588–592. doi: 10.1212/wnl.30.6.588. [DOI] [PubMed] [Google Scholar]
  8. Bonkowsky H. L., Tschudy D. P., Collins A., Doherty J., Bossenmaier I., Cardinal R., Watson C. J. Repression of the overproduction of porphyrin precursors in acute intermittent porphyria by intravenous infusions of hematin. Proc Natl Acad Sci U S A. 1971 Nov;68(11):2725–2729. doi: 10.1073/pnas.68.11.2725. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Bonkowsky H. L., Tschudy D. P., Weinbach E. C., Ebert P. S., Doherty J. M. Porphyrin synthesis and mitochondrial respiration in acute intermittent porphyria: studies using cultured human fibroblasts. J Lab Clin Med. 1975 Jan;85(1):93–102. [PubMed] [Google Scholar]
  10. Brennan M. J., Cantrill R. C. Delta-aminolaevulinic acid is a potent agonist for GABA autoreceptors. Nature. 1979 Aug 9;280(5722):514–515. doi: 10.1038/280514a0. [DOI] [PubMed] [Google Scholar]
  11. CAVANAGH J. B., MELLICK R. S. ON THE NATURE OF THE PERIPHERAL NERVE LESIONS ASSOCIATED WITH ACUTE INTERMITTENT PORPHYRIA. J Neurol Neurosurg Psychiatry. 1965 Aug;28:320–327. doi: 10.1136/jnnp.28.4.320. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Cavanagh J. B., Ridley A. R. The nature of the neuropathy complicating acute intermittent porphyria. Lancet. 1967 Nov 11;2(7524):1023–1024. doi: 10.1016/s0140-6736(67)90292-9. [DOI] [PubMed] [Google Scholar]
  13. Cutler M. G., Dick J. M., Moore M. R. Effect of delta-aminolevulinic acid on frog nerve-muscle function. Life Sci. 1978 Nov 27;23(22):2233–2238. doi: 10.1016/0024-3205(78)90209-6. [DOI] [PubMed] [Google Scholar]
  14. Cutler M. G., Moore M. R., Dick J. M. Effects of delta-aminolaevulinic acid on contractile activity of rabbit duodenum. Eur J Pharmacol. 1980 Jun 27;64(4):221–230. doi: 10.1016/0014-2999(80)90229-0. [DOI] [PubMed] [Google Scholar]
  15. DAGG J. H., GOLDBERG A., LOCHHEAD A., SMITH J. A. THE RELATIONSHIP OF LEAD POISONING TO ACUTE INTERMITTENT PORPHYRIA. Q J Med. 1965 Apr;34:163–175. [PubMed] [Google Scholar]
  16. Dhar G. J., Bossenmaier I., Petryka Z. J., Cardinal R., Watson C. J. Effects of hematin in hepatic porphyria. Further studies. Ann Intern Med. 1975 Jul;83(1):20–30. doi: 10.7326/0003-4819-83-1-20. [DOI] [PubMed] [Google Scholar]
  17. Dichter H. N., Taddeini L., Lin S., Ayala G. F. Delta amino levulinic acid. Effect of a porphyrin precursor on an isolated neuronal preparation. Brain Res. 1977 Apr 22;126(1):189–195. doi: 10.1016/0006-8993(77)90229-3. [DOI] [PubMed] [Google Scholar]
  18. Doss M., Becker U., Peter H. J., Kaffarnik H. Drug safety in porphyria: risks of valproate and metoclopramide. Lancet. 1981 Jul 11;2(8237):91–91. doi: 10.1016/s0140-6736(81)90440-2. [DOI] [PubMed] [Google Scholar]
  19. Douer D., Weinberger A., Pinkhas J., Atsmon A. Treatment of acute intermittent porphyria with large doses of propranolol. JAMA. 1978 Aug 25;240(8):766–768. [PubMed] [Google Scholar]
  20. Dowdle E., Mustard P., Spong N., Eales L. The metabolism of (5-14C)delta-aminolaevulic acid in normal and porphyric human subjects. Clin Sci. 1968 Apr;34(2):233–251. [PubMed] [Google Scholar]
  21. GIBSON J. B., GOLDBERG A. The neuropathology of acute porphyria. J Pathol Bacteriol. 1956 Apr;71(2):495–509. doi: 10.1002/path.1700710222. [DOI] [PubMed] [Google Scholar]
  22. GOLDBERG A. Acute intermittent porphyria: a study of 50 cases. Q J Med. 1959 Apr;28(110):183–209. [PubMed] [Google Scholar]
  23. Gentz J., Johansson S., Lindblad B., Lindstedt S., Zetterström R. Exertion of delta-aminolevulinic acid in hereditary tyrosinemia. Clin Chim Acta. 1969 Feb;23(2):257–263. doi: 10.1016/0009-8981(69)90040-0. [DOI] [PubMed] [Google Scholar]
  24. Graham D. J., Brodie M. J., McColl K. E., Moore M. R., Goldberg A. Quantitation of 3-ethyl-5-hydroxy-4,5-dimethyl-delta 3-pyrrolin-2-one in the urine of patients with acute intermittent porphyria. Eur J Clin Invest. 1979 Feb;9(1):49–53. doi: 10.1111/j.1365-2362.1979.tb01666.x. [DOI] [PubMed] [Google Scholar]
  25. Granick S., Sassa S., Granick J. L., Levere R. D., Kappas A. Assays for porphyrins, delta-aminolevulinic-acid dehydratase, and porphyrinogen synthetase in microliter samples of whole blood: applications to metabolic defects involving the heme pathway. Proc Natl Acad Sci U S A. 1972 Sep;69(9):2381–2385. doi: 10.1073/pnas.69.9.2381. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. HELLMAN E. S., TSCHUDY D. P., BARTTER F. C. Abnormal electrolyte and water metabolism in acute intermittent porphyria. The transient inappropriate secretion of antidiuretic hormone. Am J Med. 1962 May;32:734–746. doi: 10.1016/0002-9343(62)90163-8. [DOI] [PubMed] [Google Scholar]
  27. Houston A. B., Brodie M. J., Moore M. R., Thompson G. G., Stephenson J. B. Hereditary coproporphyria and epilepsy. Arch Dis Child. 1977 Aug;52(8):646–650. doi: 10.1136/adc.52.8.646. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Irvine D. G. Kryptopyrrole and other monopyrroles in molecular neurobiology. Int Rev Neurobiol. 1974;16(0):145–182. doi: 10.1016/s0074-7742(08)60196-8. [DOI] [PubMed] [Google Scholar]
  29. Labbe R. F. Metabolic anomalies in porphyria. The result of impaired biological oxidation? Lancet. 1967 Jun 24;1(7504):1361–1364. doi: 10.1016/s0140-6736(67)91767-9. [DOI] [PubMed] [Google Scholar]
  30. Larson A. W., Wasserstrom W. R., Felsher B. F., Chih J. C. Posttraumatic epilepsy and acute intermittent porphyria: effects of phenytoin, carbamazepine, and clonazepam. Neurology. 1978 Aug;28(8):824–828. doi: 10.1212/wnl.28.8.824. [DOI] [PubMed] [Google Scholar]
  31. Loots J. M., Becker D. M., Meyer B. J., Goldstuck N., Kramer S. The effect of porphyrin precursors on monosynaptic reflex activity in the isolated hemisected frog spinal cord. J Neural Transm. 1975;36(1):71–81. doi: 10.1007/BF01243439. [DOI] [PubMed] [Google Scholar]
  32. MELBY J. C., STREET J. P., WATSON C. J. Chlorpromazine in the treatment of porphyria. J Am Med Assoc. 1956 Sep 15;162(3):174–178. doi: 10.1001/jama.1956.02970200022005. [DOI] [PubMed] [Google Scholar]
  33. Marcus R. J., Wetterberg L., Yuwiler A., Winters W. D. Electroencephalographic and behavioral effects of experimental porphyria in the rat. Electroencephalogr Clin Neurophysiol. 1970 Dec;29(6):602–607. doi: 10.1016/0013-4694(70)90102-1. [DOI] [PubMed] [Google Scholar]
  34. McColl K. E., Moore M. R., Thompson G. G., Goldberg A. Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities. J Med Genet. 1982 Aug;19(4):271–276. doi: 10.1136/jmg.19.4.271. [DOI] [PMC free article] [PubMed] [Google Scholar]
  35. McColl K. E., Moore M. R., Thompson G. G., Goldberg A. Treatment with haematin in acute hepatic porphyria. Q J Med. 1981 Spring;50(198):161–174. [PubMed] [Google Scholar]
  36. McGillion F. B., Thompson G. G., Goldberg A. Tissue uptake of o-aminolaevulinic acid. Biochem Pharmacol. 1975 Jan 15;24(2):99–301. doi: 10.1016/0006-2952(75)90295-6. [DOI] [PubMed] [Google Scholar]
  37. McGillion F. B., Thompson G. G., Moore M. R., Goldberg A. The passage of delta-aminolaevulinic acid across the blood-brain barrier of the rat: effect of ethanol. Biochem Pharmacol. 1974 Jan 15;23(2):472–474. doi: 10.1016/0006-2952(74)90443-2. [DOI] [PubMed] [Google Scholar]
  38. Meyer U. A., Strand L. J., Doss M., Rees A. C., Marver H. S. Intermittent acute porphyria--demonstration of a genetic defect in porphobilinogen metabolism. N Engl J Med. 1972 Jun 15;286(24):1277–1282. doi: 10.1056/NEJM197206152862401. [DOI] [PubMed] [Google Scholar]
  39. Moore M. R. International review of drugs in acute porphyria--1980. Int J Biochem. 1980;12(5-6):1089–1097. doi: 10.1016/0020-711x(80)90218-9. [DOI] [PubMed] [Google Scholar]
  40. Mustajoki P., Seppălăinen A. M. Neuropathy in latent hereditary hepatic porphyria. Br Med J. 1975 May 10;2(5966):310–312. doi: 10.1136/bmj.2.5966.310. [DOI] [PMC free article] [PubMed] [Google Scholar]
  41. Nicoll R. A. The interaction of porphyrin precursors with GABA receptors in the isolated frog spinal cord. Life Sci. 1976 Aug 15;19(4):521–525. doi: 10.1016/0024-3205(76)90231-9. [DOI] [PubMed] [Google Scholar]
  42. Paterniti J. R., Jr, Simone J. J., Beattie D. S. Detection and regulation of delta-aminolevulinic acid synthetase activity in the rat brain. Arch Biochem Biophys. 1978 Jul;189(1):86–91. doi: 10.1016/0003-9861(78)90117-0. [DOI] [PubMed] [Google Scholar]
  43. Percy V. A., Shanley B. C. Prophyrin precursors in blood, urine and cerebrospinal fluid in acute porphyria. S Afr Med J. 1977 Jul 30;52(6):219–222. [PubMed] [Google Scholar]
  44. Percy V. A., Shanley B. C. Studies on haem biosynthesis in rat brain. J Neurochem. 1979 Dec;33(6):1267–1274. doi: 10.1111/j.1471-4159.1979.tb05273.x. [DOI] [PubMed] [Google Scholar]
  45. Perlroth M. G., Tschudy D. P., Waxman A., Odell W. D. Abnormalities of growth hormone regulation in acute intermittent porphyria. Metabolism. 1967 Jan;16(1):87–90. doi: 10.1016/0026-0495(67)90163-1. [DOI] [PubMed] [Google Scholar]
  46. Piepkorn M. W., Hamernyik P., Labbé R. F. Modified erythrocyte uroporphyrinogen I synthase assay, and its clinical interpretation. Clin Chem. 1978 Oct;24(10):1751–1754. [PubMed] [Google Scholar]
  47. Ridley A., Hierons R., Cavanagh J. B. Tachycardia and the neuropathy of porphyria. Lancet. 1968 Sep 28;2(7570):708–710. doi: 10.1016/s0140-6736(68)90751-4. [DOI] [PubMed] [Google Scholar]
  48. Ridley A. The neuropathy of acute intermittent porphyria. Q J Med. 1969 Jul;38(151):307–333. [PubMed] [Google Scholar]
  49. Sassa S., Solish G., Levere R. D., Kappas A. Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait. J Exp Med. 1975 Sep 1;142(3):722–731. doi: 10.1084/jem.142.3.722. [DOI] [PMC free article] [PubMed] [Google Scholar]
  50. Schley G., Bock K. D., Hocevar V., Merguet P., Rausch-Stroomann J. G., Schröder E., Schümann H. J. Hochdruck und Tachykardie bei der akuten intermittierenden Porphyrie. Klin Wochenschr. 1970 Jan 1;48(1):36–42. doi: 10.1007/BF01486127. [DOI] [PubMed] [Google Scholar]
  51. Shanley B. C., Neethling A. C., Percy V. A., Carstens M. Neurochemical aspects of porphyria. Studies on the possible neurotoxicity of delta-aminolaevulinic acid. S Afr Med J. 1975 Mar 29;49(14):576–580. [PubMed] [Google Scholar]
  52. Smith A. G., De Matteis F. Drugs and the hepatic porphyrias. Clin Haematol. 1980 Jun;9(2):399–425. [PubMed] [Google Scholar]
  53. Sorensen A. W., With T. K. Persistent pareses after porphyric attacks. S Afr Med J. 1971 Sep 25;:101–103. [PubMed] [Google Scholar]
  54. Stein J. A., Tschudy D. P. Acute intermittent porphyria. A clinical and biochemical study of 46 patients. Medicine (Baltimore) 1970 Jan;49(1):1–16. [PubMed] [Google Scholar]
  55. Tishler P. V., Gordon B. J., O'Connor J. A. The adsorption of porphyrins and porphyrin precursors by sorbents: a potential therapy for the porphyrias. Methods Find Exp Clin Pharmacol. 1982;4(2):125–131. [PubMed] [Google Scholar]
  56. Watson C. J., Pierach C. A., Bossenmaier I., Cardinal R. Use of hematin in the acute attack of the "inducible" hepatic prophyrias. Adv Intern Med. 1978;23:265–286. [PubMed] [Google Scholar]
  57. Waxman A. D., Berk P. D., Schalch D., Tschudy D. P. Isolated adrenocorticotrophic hormone deficiency in acute intermittent porphyria. Ann Intern Med. 1969 Feb;70(2):317–323. doi: 10.7326/0003-4819-70-2-317. [DOI] [PubMed] [Google Scholar]
  58. Wider de Xifra E. A., Batlle A. M., Stella A. M., Malamud S. Acute intermittent porphyria--another approach to therapy. Int J Biochem. 1980;12(5-6):819–822. doi: 10.1016/0020-711x(80)90169-x. [DOI] [PubMed] [Google Scholar]

Articles from Journal of the Royal Society of Medicine are provided here courtesy of Royal Society of Medicine Press

RESOURCES