Porphyric neuropathy

Muscle and Nerve

Volumn 30, Issue 4, 2004, Pages 410-422

  Albers, James W ^a,b   Fink, John K ^a,c  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c VA ANN ARBOR HEALTHCARE SYSTEM   (United States)

Author keywords

Nervous system; Neuropathy; Porphyria; Porphyric neuropathy

Indexed keywords

ACETYLSALICYLIC ACID; ACICLOVIR; AMANTADINE; AMINOLEVULINIC ACID; ATROPINE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BROMIDE; CHLORAL HYDRATE; CHLORPROMAZINE; CIMETIDINE; COLCHICINE; DOPAMINE; FENTANYL; GABAPENTIN; GLUCOCORTICOID; HALOPERIDOL; HEME; INSULIN; METALLOPORPHYRIN; NARCOTIC ANALGESIC AGENT; NEOSTIGMINE; OPIATE; PARACETAMOL; PENICILLIN G; PHENOTHIAZINE DERIVATIVE; PORPHYRIN; PROCAINE; PROPOFOL; RESERPINE; UNINDEXED DRUG;

ABDOMINAL PAIN; AUTOSOMAL DOMINANT DISORDER; CEREBROSPINAL FLUID; DISEASE SEVERITY; DRUG SAFETY; ELECTRODIAGNOSIS; GUILLAIN BARRE SYNDROME; HEME SYNTHESIS; HUMAN; LABORATORY TEST; MUSCLE WEAKNESS; NEUROPATHY; NEUROTOXICITY; PATHOPHYSIOLOGY; PORPHYRIA; PORPHYRIC NEUROPATHY; PORPHYRIN METABOLISM; PRIORITY JOURNAL; PSYCHOLOGICAL ASPECT; PSYCHOSIS; REVIEW; SYMPTOMATOLOGY;

ANIMALS; ELECTROPHYSIOLOGY; HISTORY, 19TH CENTURY; HISTORY, 20TH CENTURY; HUMANS; PERIPHERAL NERVOUS SYSTEM DISEASES; PORPHYRIAS, HEPATIC; PORPHYRINS;

EID: 4644269324     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20137     Document Type: Review

References (99)

1. Adams A. Update on porphyria. Blood line. Acute porphyria. Drug information. http://www.dotpharmacy.com/uporphy.html
2. Albers JW. Porphyric neuropathy. In: Mendell JR, Kissel JT, Cornblath DR, editors. Diagnosis and management of peripheral nerve disorders. New York: Oxford University Press; 2001. p 344-366.
3. Albers JW, Robertson WC Jr, Daube JR. Electrodiagnostic findings in acute porphyric neuropathy. Muscle Nerve 1978;1:292-296.
4. American Porphyria Foundation. About porphyria. Drugs and porphyria. Drugs considered unsafe and safe in acute porphyrias. www.porphyriafoundation. com.
5. Anonymous. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 39-1984. A 29-year-old woman with abdominal pain, myalgia, and muscle weakness. N Engl J Med 1984;311:839-847.
6. Badminton MN, Elder GH. Management of acute and cutaneous porphyrias. Int J Clin Pract 2002;56:272-278.
7. Becker DM, Kramer S. The neurological manifestations of porphyria: a review. Medicine (Baltimore) 1977;56:411-423.
8. Bissell DM. Disorders of porphyrins or metals. Porphyria. In: Wyngaarden JB, Smith LH, editors. Cecil textbook of medicine. Philadelphia: Saunders; 1985. p 1153-1158.
9. Bonkovsky HLB. The porphyrias. Curr Treat Options Gastroenterol 2000;3:487-500.
10. Bonkowsky HL, Tschudy DP, Collins A, Doherty J, Bossenmaier I, Cardinal R, Watson CJ. Repression of the overproduction of porphyrin precursors in acute intermittent porphyria by intravenous infusions of hematin. Proc Natl Acad Sci USA 1971;68:2725-2729.
11. Cacheux V, Martasek P, Fougerousse F, Delfau MH, Druart L, Tachdjian G, Grandchamp B. Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12. Hum Genet 1994;94:557-559.
12. Day RS, Eales L, Meissner D. Coexistent variegate porphyria and porphyria cutanea tarda. N Engl J Med 1982;307:36-41.
13. Dean G. The porphyrias. A story of inheritance and environment. Bristol, UK: Pitman Medical; 1971.
14. Delfau MH, Picat C, de Rooij FW, Hamer K, Bogard M, Wilson JH, Deybach JC, Nordmann Y, Grandchamp B. Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. J Clin Invest 1990;86:1511-1516.
15. Delfau-Larue MH, Martasek P, Grandchamp B. Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping. Hum Mol Genet 1994;3:1325-1330.
16. Denny-Brown D, Sciarra D. Changes in the nervous system in acute porphyria. Brain 1945;68:1-16.
17. Desnick RJ, Astrin KH, Anderson KE. Inherited porphyrias. In: Rimoin DL, Connor JM, Pyeritz R, Korf BR, editors. Emery and Rimoin's principles and practice of medical genetics. New York: Churchill Livingstone; 2002. p 2587-2623.
18. Devlin TM. Textbook of biochemistry: with clinical correlations. New York: John Wiley & Sons; 1986.
19. Deybach JC, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y. Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Hum Mol Genet 1996;5:407-410.
20. Dhar GJ, Bossenmaier I, Petryka ZJ, Cardinal R, Watson CJ. Effects of hematin in hepatic porphyria. Further studies. Ann Intern Med 1975;83:20-30.
21. Dobrschansky M. Einiges über malonal. Wien Med Presse 1906;47:2145-2151.
22. Doss MO. Porphyrinurias and occupational disease. Ann NY Acad Sci 1987;514:204-218.
23. Downey D. Porphyrin enzyme analysis in an oral pathology practice: a look back over four years. Med Hypotheses 1996;46:563-567.
24. Eales L, Day RS, Blekkenhorst GH. The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town. Int J Biochem 1980;12:837-853.
25. Elder G and Welsh Medicines Information Center. Acute porphyrias. Drugs that are considered to be safe for use in the acute porphyrias. www.ukmi.nhs.uk.
26. Ellefson RD. Porphyrinogens, porphyrins, and the porphyrias. Mayo Clin Proc 1982;57:454-458.
27. Ellefson RD, Ford RE. The porphyrias: characteristics and laboratory tests. Regul Toxicol Pharmacol 1996;24(suppl):S119-S125.
28. Flugel KA, Druschky KF. Electromyogram and nerve conduction in patients with acute intermittent porphyria. J Neurol 1977;214:267-279.
29. Goldberg A, Rimington C. Diseases of porphyrin metabolism. Springfield, IL: Thomas; 1962.
30. Goren MB, Chen C. Acute intermittent porphyria with atypical neuropathy. South Med J 1991;84:668-669.
31. Grandchamp B, Lamoril J, Puy H. Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria. J Bioenerg Biomembr 1995;27:215-219.
32. Grandchamp B, Picat C, de Rooij F, Beaumont C, Wilson P, Deybach JC, Nordmann Y. A point mutation G→A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria. Nucl Acids Res 1989;17:6637-6649.
33. Grandchamp B, Picat C, Kauppinen R, Mignotte V, Peltonen L, Mustajoki P, Romeo PH, Goossens M, Nordmann Y. Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase. Eur J Clin Invest 1989;19:415-418.
34. Grandchamp B, Picat C, Mignotte V, Wilson JH, Te VK, Sandkuyl L, Romeo PH, Goossens M, Nordmann Y. Tissue-specific splicing mutation in acute intermittent porphyria. Proc Natl Acad Sci USA 1989;86:661-664.
35. Gross U, Hoffmann GF, Doss MO. Erythropoietic and hepatic porphyrias. J Inherit Metabol Dis 2000;23:641-661.
36. Günther H. Die hämatoporphyrie. Archiv Klin Med 1911;105:89-146.
37. Hierons R. Acute intermittent porphyria. Postgrad Med J 1967;43:605-608.
38. Ishida N, Fujita H, Noguchi T, Doss M, Kappas A, Sassa S. Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria. Biochem Biophys Res Commun 1990;172:237-242.
39. Johansson AMI. Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery. Mol Cell Biochem 2003;250:65-71.
40. Juknat AA, Kotler ML, Quaglino A, Carrillo NM, Hevor T. Necrotic cell death induced by delta-aminolevulinic acid in mouse astrocytes. Protective role of melatonin and other antioxidants. J Pineal Res 2003;35:1-11.
41. Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. New York: McGraw-Hill; 1989. p 1305-1365.
42. 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;4:215-222.
43. Kirsch RE, Meissner PN, Hift RJ. Variegate porphyria. Sem Liver Dis 1998;18:33-41.
44. Lai CW, Hung TP, Lin WS. Blindness of cerebral origin in acute intermittent porphyria. Report of a case and postmortem examination. Arch Neurol 1977;34:310-312.
45. Laiwah AC, Macphee GJ, Boyle P, Moore MR, Goldberg A. Autonomic neuropathy in acute intermittent porphyria. J Neurol Neurosurg Psychiatry 1985;48:1025-1030.
46. Laiwah AC, McColl KE. Management of attacks of acute porphyria. Drugs 1987;34:604-616.
47. Lamon JM, Frykholm BC, Hess RA, Tschudy DP. Hematin therapy for acute porphyria. Medicine (Baltimore) 1979;58:252-269.
48. Lamoril J, Martasek P, Deybach JC, Da S, V, Grandchamp B, Nordmann Y. A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. Hum Mol Genet 1995;4:275-278.
49. Leger JM, Salachas F. Diagnosis of motor neuropathy. Eur J Neurol 2001;8:201-208.
50. Loftus LS, Arnold WN. Vincent van Gogh's illness: acute intermittent porphyria? BMJ 1991;303:1589-1591.
51. MacAlpine I, Hunter R. The "insanity" of King George III: a classic case of porphyria. Br Med J 1966;5479:65-71.
52. MacAlpine I, Hunter R, Rimington C. Porphyria in the royal houses of Stuart, Hanover, and Prussia. A follow-up study of George III's illness. Br Med J 1968;1:7-18.
53. MacAlpine I, Hunter R, Rimington C. Royal malady. Br Med J 1968;1:705-706.
54. Martasek P, Camadro JM, Delfau-Larue MH, Dumas JB, Montagne JJ, de Verneuil H, Labbe P, Grandchamp B. Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase. Proc Natl Acad Sci USA 1994;91:3024-3028.
55. Martasek P, Nordmann Y, Grandchamp B. Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum Mol Genet 1994;3:477-480.
56. Maytham DV, Eales L. Electrodiagnostic findings in porphyria. S Afr Med J 1971;45(special issue):99-100.
57. McColl KE, Moore MR, Thompson GG, Goldberg A. Treatment with haematin in acute hepatic porphyria. Q J Med 1981;50:161-174.
58. Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG, Meissner DM, Kirsch RE, Dailey HA. 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.
59. Meissner PN, Day RS, Moore MR, Disler PB, Harley E. Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria. Eur J Clin Invest 1986;16:257-261.
60. Meyer UA, Strand LJ, Doss M, Marver HS. Intermittent acute porphyria-demonstration of a genetic defect in porphyrine metabolism. N Engl J Med 1972;286:1277-1282.
61. Moore MR, McColl KE. Therapy of the acute porphyrias. Clin Biochem 1989;22:181-188.
62. Moore MR, McColl KEL, Rimington C, Goldberg SA. Disorders of porphyrin metabolism. New York: Plenum; 1987. p. 18-155.
63. Mustajoki P. Red cell uroporphyrinogen I synthetase in acute intermittent porphyria. Ann Clin Res 1976;8(suppl 17):133-138.
64. Nagler W. Peripheral neuropathy in acute intermittent porphyrias. Arch Phys Med Rehabil 1971;52:426-431.
65. Nordmann Y, de Verneuil H, Deybach JC, Delfau MH, Grandchamp B. Molecular genetics of porphyrias. Ann Med 1990;22:387-391.
66. Nordmann Y, Puy H. Human hereditary hepatic porphyrias. Clin Chim Acta 2002;325:17-37.
67. Parera VED. Acute porphyrias in the Argentinean population: a review. Cell Mol Biol 2003;-49:493-500.
68. Paterniti JR Jr, Simone JJ, Beattie DS. Detection and regulation of delta-aminolevulinic acid synthetase activity in the rat brain. Arch Biochem Biophys 1978;189:86-91.
69. Percy VA, Shanley BC. Prophyrin precursors in blood, urine and cerebrospinal fluid in acute porphyria. S Afr Med J 1977;52:219-222.
70. Percy VA, Shanley BC. Studies on haem biosynthesis in rat brain. J Neurochem 1979;33:1267-1274.
71. Pierach CA. Hematin therapy for the porphyric attack. Semin Liver Dis 1982;2:125-131.
72. Pierach CA, Weimer MK, Cardinal RA, Bossenmaier IC, Bloomer JR, Blommer JR. Red blood cell porphobilinogen deaminase in the evaluation of acute intermittent porphyria. JAMA 1987;257:60-61.
73. Potluri VR, Astrin KH, Wetmur JG, Bishop DF, Desnick RJ. Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization. Hum Genet 1987;76:236-239.
74. Ranking JE, Pardington GL. Two cases of haemato-porphyria in the urine. Lancet 1890;2:607-609.
75. Ridley A. The neuropathy of acute intermittent porphyria. Q J Med 1969;28:307-333.
76. Ridley A. Porphyric neuropathy. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R, editors. Peripheral neuropathy. Philadelphia: Saunders; 1984. p 1704-1716.
77. Roberts AG, Whatley SD, Daniels J, Holmans P, Fenton I, Owen MJ, Thompson P, Long C, Elder GH. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. Hum Mol Genet 1995;4:2387-2390.
78. Sack GH Jr. Acute intermittent porphyria. JAMA 1990;264:1290-1293.
79. Santosh PJ, Malhotra S. Varied psychiatric manifestations of acute intermittent porphyria. Biol Psychiatry 1994;36:744-747.
80. Sassa S, Kappas A. Prenatal diagnosis of acute intermittent porphyria. N Engl J Med 1976;295:1381.
81. Sassa S, Kappas A. Molecular aspects of the inherited porphyrias. J Intern Med 2000;247:169-178.
82. Schreiber WE. A molecular view of the neurologic porphyrias. Clin Lab Med 1997;17:73-83.
83. Schreiber WE, Fong F, Nassar BA, Jamani A. Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria. Hum Genet 1995;96:161-166.
84. Schreiber WE, Jamani A, Armstrong JG. Acute intermittent porphyria in a native North American family. Biochemical and molecular analysis. Am J Clin Pathol 1995;103:730-734.
85. Schreiber WE, Zhang X, Senz J, Jamani A. Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene. Hum Mutat 1997;10:196-200.
86. Scobie GA, Llewellyn DH, Urquhart AJ, Smyth SJ, Kalsheker NA, Harrison PR, Elder GH. Acute intermittent porphyria caused by a C-T mutation that produces a stop codon in the porphobilinogen deaminase gene. Hum Genet 1990;85:631-634.
87. Scott L, Bean DW. Psychiatric manifestations of porphyria. S Dakota J Med 1987;40:5-8.
88. Sorensen AWS, With TK. Persistent paresis after prophyric attacks. S Afr Med J 1971;45(special issue):101-103.
89. Sorenson EJ, Albers JW. Neurological manifestations of porphyria. In: Goetz CG, Aminoff MJ, editors. Handbook of clinical neurology, vol. 70. Amsterdam: Elsevier; 1998. p 299-312.
90. Stein JA, Tschudy DP. Acute intermittent porphyria. A clinical and biochemical study of 46 patients. Medicine (Baltimore) 1970;49:1-16.
91. Stewart PM, Hersley WJ. An acute attack of variegate porphyria complicated by severe autonomic neuropathy. Aust NZ J Med 1981;11:82-83.
92. Taketani S, Inazawa J, Abe T, Furukawa T, Kohno H, Tokunaga R, Nishimura K, Inokuchi H. The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. Genomics 1995;29:698-703.
93. The Guillain-Barré syndrome study group. Plasmapheresis and acute Guillain-Barré syndrome. Neurology 1985;35:1096-1104.
94. 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.
95. Wang AL, Arredondo-Vega FX, Giampietro PF, Smith M, Anderson WF, Desnick RJ. Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter. Proc Natl Acad Sci USA 1981;78:5734-5738.
96. Warnich L, Kotze MJ, Groenewald IM, Groenewald JZ, van Brakel MG, van Heerden CJ, de Villiers JN, van de Ven WJ, Schoenmakers EF, Taketani S, Retief AE. Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Hum Mol Genet 1996;5:981-984.
97. Windebank AJ, Bonkovsky HL. Porphyric neuropathy. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy. Philadelphia: Saunders; 1993. p 1161-1168.
98. Yeung Laiwah AC, Moore MR, Goldberg A. Pathogenesis of acute porphyria. Q J Med 1987;63:377-392.
99. Zimmerman EA, Lovelace RE. The etiology of the neuropathy in acute intermittent porphyria. Trans Am Neurol Assoc 1968;93:294-296.