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J Neurol Neurosurg Psychiatry. 1997 April; 62(4): 319–328.
PMCID: PMC1074085

The little imitator--porphyria: a neuropsychiatric disorder.

Abstract

Three common subtypes of porphyria give rise to neuropsychiatric disorders; acute intermittent porphyria, variegate porphyria, and coproporphyria. The second two also give rise to cutaneous symptoms. Neurological or psychiatric symptoms occur in most acute attacks, and may mimic many other disorders. The diagnosis may be missed because it is not even considered or because of technical problems, such as sample collection and storage, and interpretation of results. A negative screening test does not exclude the diagnosis. Porphyria may be overrepresented in psychiatric populations, but the lack of control groups makes this uncertain. The management of patients with porphyria and psychiatric symptoms causes considerable problems. Three cases are described to illustrate some of these issues. Advances in molecular biology permit identification of patients and latent carriers in the family. Care to avoid relapses and improved treatments have reduced the mortality.

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Selected References

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  • Massey EW. Neuropsychiatric manifestations of porphyria. J Clin Psychiatry. 1980 Jun;41(6):208–213. [PubMed]
  • Elder GH. Molecular genetics of disorders of haem biosynthesis. J Clin Pathol. 1993 Nov;46(11):977–981. [PMC free article] [PubMed]
  • Hindmarsh JT. Variable phenotypic expression of genotypic abnormalities in the porphyrias. Clin Chim Acta. 1993 Jul 30;217(1):29–38. [PubMed]
  • Ben-Chetrit E, Putterman C. Clinical problem-solving. Still hazy after all these years. N Engl J Med. 1994 Oct 6;331(14):934–938. [PubMed]
  • Patience DA, Blackwood DH, McColl KE, Moore MR. Acute intermittent porphyria and mental illness--a family study. Acta Psychiatr Scand. 1994 Apr;89(4):262–267. [PubMed]
  • WALDENSTROM J. The porphyrias as inborn errors of metabolism. Am J Med. 1957 May;22(5):758–773. [PubMed]
  • Macalpine I, Hunter R. The "insanity" of King George 3d: a classic case of porphyria. Br Med J. 1966 Jan 8;1(5479):65–71. [PMC free article] [PubMed]
  • Case JL. Palatography and myo-functional therapy. Int J Oral Myol. 1975 Apr;1(2):65–71. [PubMed]
  • Jenkins T. The South African malady. Nat Genet. 1996 May;13(1):7–9. [PubMed]
  • Warren MJ, Jay M, Hunt DM, Elder GH, Röhl JC. The maddening business of King George III and porphyria. Trends Biochem Sci. 1996 Jun;21(6):229–234. [PubMed]
  • Loftus LS, Arnold WN. Vincent van Gogh's illness: acute intermittent porphyria? BMJ. 1991 Dec 21;303(6817):1589–1591. [PMC free article] [PubMed]
  • Phillips V. Queen Anne's "seventeen disappointments". Med J Aust. 1992 Mar 2;156(5):341–342. [PubMed]
  • McColl KE, Thompson GG, Moore MR, Goldberg A, Church SE, Qadiri MR, Youngs GR. Chester porphyria: biochemical studies of a new form of acute porphyria. Lancet. 1985 Oct 12;2(8459):796–799. [PubMed]
  • Peters HA, Gocmen A, Cripps DJ, Bryan GT, Dogramaci I. Epidemiology of hexachlorobenzene-induced porphyria in Turkey: clinical and laboratory follow-up after 25 years. Arch Neurol. 1982 Dec;39(12):744–749. [PubMed]
  • Mustajoki P, Koskelo P. Hereditary hepatic porphyrias in Finland. Acta Med Scand. 1976;200(3):171–178. [PubMed]
  • KAELBLING R, CRAIG JB, PASAMANICK B. Urinary porphobilinogen. Results of screening 2,500 psychiatric patients. Arch Gen Psychiatry. 1961 Nov;5:494–508. [PubMed]
  • Buttery JE. Is the Watson-Schwartz screening method for porphobilinogen reliable? Clin Chem. 1995 Nov;41(11):1670–1671. [PubMed]
  • Tishler PV, Woodward B, O'Connor J, Holbrook DA, Seidman LJ, Hallett M, Knighton DJ. High prevalence of intermittent acute porphyria in a psychiatric patient population. Am J Psychiatry. 1985 Dec;142(12):1430–1436. [PubMed]
  • el-Shazly M. Acute intermittent porphyria: a family study. Br J Hosp Med. 1995 Feb 15;53(4):169–170. [PubMed]
  • Yeung Laiwah AC, Moore MR, Goldberg A. Pathogenesis of acute porphyria. Q J Med. 1987 May;63(241):377–392. [PubMed]
  • Lindberg RL, Porcher C, Grandchamp B, Ledermann B, Bürki K, Brandner S, Aguzzi A, Meyer UA. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat Genet. 1996 Feb;12(2):195–199. [PubMed]
  • Coşkun T, Ozalp I, Koçak N, Yüce A, Caglar M, Berger R. Type I hereditary tyrosinaemia: presentation of 11 cases. J Inherit Metab Dis. 1991;14(5):765–770. [PubMed]
  • Philip AT, Gerson B. Lead poisoning--Part I. Incidence, etiology, and toxicokinetics. Clin Lab Med. 1994 Jun;14(2):423–444. [PubMed]
  • Flügel KA, Druschky KF. Electromyogram and nerve conduction in patients with acute intermittent porphyria. J Neurol. 1977 Mar 21;214(4):267–279. [PubMed]
  • Sweeney VP, Pathak MA, Asbury AK. Acute intermittent porphyria. Increased ALA-synthetase activity during an acute attack. Brain. 1970;93(2):369–380. [PubMed]
  • Straka JG, Rank JM, Bloomer JR. Porphyria and porphyrin metabolism. Annu Rev Med. 1990;41:457–469. [PubMed]
  • Black KS, Mirsky P, Kalina P, Greenberg RW, Drehobl KE, Sapan M, Meikle E. Angiographic demonstration of reversible cerebral vasospasm in porphyric encephalopathy. AJNR Am J Neuroradiol. 1995 Sep;16(8):1650–1652. [PubMed]
  • King PH, Bragdon AC. MRI reveals multiple reversible cerebral lesions in an attack of acute intermittent porphyria. Neurology. 1991 Aug;41(8):1300–1302. [PubMed]
  • Thunell S, Andersson C, Carlmark B, Floderus Y, Grönqvist SO, Harper P, Henrichson A, Lindh U. Markers for vulnerability in acute porphyria. A hypothesis paper. Eur J Clin Chem Clin Biochem. 1995 Apr;33(4):179–194. [PubMed]
  • Brodie MJ, Goldberg A. Acute hepatic porphyrias. Clin Haematol. 1980 Jun;9(2):253–272. [PubMed]
  • Kauppinen R, Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine (Baltimore) 1992 Jan;71(1):1–13. [PubMed]
  • Thunell S, Floderus Y, Henrichson A, Moore MR, Meissner P, Sinclair J. Alcoholic beverages in acute porphyria. J Stud Alcohol. 1992 May;53(3):272–276. [PubMed]
  • Doss M, Baumann H, Sixel F. Alcohol in acute porphyria. Lancet. 1982 Jun 5;1(8284):1307–1307. [PubMed]
  • WELLAND FH, HELLMAN ES, COLLINS A, HUNTER GW, Jr, TSCHUDY DP. FACTORS AFFECTING THE EXCRETION OF PORPHYRIN PRECURSORS BY PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA. II. THE EFFECT OF ETHINYL ESTRADIOL. Metabolism. 1964 Mar;13:251–258. [PubMed]
  • Badcock NR, O'Reilly DA, Zoanetti GD, Robertson EF, Parker CJ. Childhood porphyrias: implications and treatments. Clin Chem. 1993 Jun;39(6):1334–1340. [PubMed]
  • Mandoki MW, Sumner GS. Psychiatric manifestations of hereditary coproporphyria in a child. J Nerv Ment Dis. 1994 Feb;182(2):117–118. [PubMed]
  • GOLDBERG A. Acute intermittent porphyria: a study of 50 cases. Q J Med. 1959 Apr;28(110):183–209. [PubMed]
  • Stein JA, Tschudy DP. Acute intermittent porphyria. A clinical and biochemical study of 46 patients. Medicine (Baltimore) 1970 Jan;49(1):1–16. [PubMed]
  • Mustajoki P, Nordmann Y. Early administration of heme arginate for acute porphyric attacks. Arch Intern Med. 1993 Sep 13;153(17):2004–2008. [PubMed]
  • ACKNER B, COOPER JE, GRAY CH, KELLY M. Acute porphyria: a neuropsychiatric and biochemical study. J Psychosom Res. 1962 Jan-Mar;6:1–24. [PubMed]
  • Carter JH. Updating acute intermittent porphyria: a case of self-mutilation. J Natl Med Assoc. 1977 Jan;69(1):51–52. [PMC free article] [PubMed]
  • Kauppinen R, Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine (Baltimore) 1992 Jan;71(1):1–13. [PubMed]
  • Hardell L, Bengtsson NO, Jonsson U, Eriksson S, Larsson LG. Aetiological aspects on primary liver cancer with special regard to alcohol, organic solvents and acute intermittent porphyria--an epidemiological investigation. Br J Cancer. 1984 Sep;50(3):389–397. [PubMed]
  • McEneaney D, Hawkins S, Trimble E, Smye M. Porphyric neuropathy--a rare and often neglected differential diagnosis of Guillain-Barré syndrome. J Neurol Sci. 1993 Feb;114(2):231–232. [PubMed]
  • Laiwah AC, Macphee GJ, Boyle P, Moore MR, Goldberg A. Autonomic neuropathy in acute intermittent porphyria. J Neurol Neurosurg Psychiatry. 1985 Oct;48(10):1025–1030. [PMC free article] [PubMed]
  • Vassallo MJ, Camilleri M, Sullivan SN, Thomforde GM. Effects of erythromycin on gut transit in pseudo-obstruction due to hereditary coproporphyria. J Clin Gastroenterol. 1992 Apr;14(3):255–259. [PubMed]
  • Scane AC, Wight JP, Godwin-Austen RB. Acute intermittent porphyria presenting as epilepsy. Br Med J (Clin Res Ed) 1986 Apr 5;292(6525):946–947. [PMC free article] [PubMed]
  • Bylesjö I, Forsgren L, Lithner F, Boman K. Epidemiology and clinical characteristics of seizures in patients with acute intermittent porphyria. Epilepsia. 1996 Mar;37(3):230–235. [PubMed]
  • Downey DC. Fatigue syndromes revisited: the possible role of porphyrins. Med Hypotheses. 1994 May;42(5):285–290. [PubMed]
  • Bonkovsky HL. Advances in understanding and treating 'the little imitator,' acute porphyria. Gastroenterology. 1993 Aug;105(2):590–594. [PubMed]
  • Santosh PJ, Malhotra S. Varied psychiatric manifestations of acute intermittent porphyria. Biol Psychiatry. 1994 Dec 1;36(11):744–747. [PubMed]
  • Reynolds NC, Jr, Miska RM. Safety of anticonvulsants in hepatic porphyrias. Neurology. 1981 Apr;31(4):480–484. [PubMed]
  • Gregor A, Kostrzewska E, Tarczynska-Nosal S, Stachurska H. Coexistence of hereditary coproporphyria with acute intermittent porphyria. Ann Med. 1994 Apr;26(2):125–127. [PubMed]
  • Grandchamp B, De Verneuil H, Beaumont C, Chretien S, Walter O, Nordmann Y. Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene. Eur J Biochem. 1987 Jan 2;162(1):105–110. [PubMed]
  • Whatley SD, Roberts AG, Elder GH. De-novo mutation and sporadic presentation of acute intermittent porphyria. Lancet. 1995 Oct 14;346(8981):1007–1008. [PubMed]
  • 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 May;13(1):95–97. [PubMed]
  • Ratnaike S, Blake D. The diagnosis and follow-up of porphyria. Pathology. 1995 Apr;27(2):142–153. [PubMed]
  • Pinkham JM, Southall DP. Unusual case of suspected acute porphyria. Clin Chem. 1995 Feb;41(2):323–324. [PubMed]
  • Lim CK, Peters TJ. Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias. Clin Chim Acta. 1984 May 16;139(1):55–63. [PubMed]
  • Deacon AC. Fecal porphyrin screening. Clin Chem. 1990 Jul;36(7):1383–1383. [PubMed]
  • Logan GM, Weimer MK, Ellefson M, Pierach CA, Bloomer JR. Bile porphyrin analysis in the evaluation of variegate porphyria. N Engl J Med. 1991 May 16;324(20):1408–1411. [PubMed]
  • 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 Jan 2;257(1):60–61. [PubMed]
  • Mustajoki P, Tenhunen R. Variant of acute intermittent porphyria with normal erythrocyte uroporphyrinogen-I-synthase activity. Eur J Clin Invest. 1985 Oct;15(5):281–284. [PubMed]
  • Herrick AL, McColl KE, Wallace AM, Moore MR, Goldberg A. LHRH analogue treatment for the prevention of premenstrual attacks of acute porphyria. Q J Med. 1990 Apr;75(276):355–363. [PubMed]

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