Metabolic Disorders

  • James W. Jefferson
  • John R. Marshall
Part of the Critical Issues in Psychiatry book series (CIPS)


The term porphyria refers to a group of diseases, each with characteristic manifestations, that have in common excessive excretion of one or more porphyrins, porphyrinogens, and/or porphyrin precursors in the urine and/ or feces. The term porphyrinuria refers to porphyrins appearing in the urine and is thus a sign rather than a disease. Classification of these disorders is not entirely satisfactory, but most commonly they are separated into two general groups. The first is erythropoietic porphyria, a blood disorder in which excessive quantities of porphyrins are accumulated in the normoblasts and erythrocytes, the blood forming tissues. The second group is that of the hepatic porphyrias, which includes porphyria variegata, porphyria cutanea tarda, hereditary coproporphyria, and acute intermittent porphyria. It is this latter syndrome that has the most important psychiatric implications and, consequently, is the one most often described in the psychiatric literature.


Wilson Disease Copper Metabolism Porphyria Cutanea Tarda Intermittent Acute Porphyria Acute Intermittent Porphyria 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Ackner B, Cooper JE, Gray CH, et al: Acute porphyria: A neuropsychiatric and biochemical study. J Psychosom Res 6: 1–24, 1962.PubMedCrossRefGoogle Scholar
  2. Atcheson SG, Ward JR: Ptosis and weakness after start of D-penicillamine therapy. Ann Intern Med 89: 939–940, 1978.PubMedGoogle Scholar
  3. Becker DM, Kramer S: The neurological manifestations of porphyria: A review. Medicine 56: 411–422, 1977.PubMedCrossRefGoogle Scholar
  4. Broomfield B: Acute intermittent porphyria treated with chlorpromazine. Proc R Soc Med 55: 799–800, 1962.PubMedGoogle Scholar
  5. Carney MP: Hepatic porphyria with mental symptoms. Lancet 2: 100–101, 1972.PubMedCrossRefGoogle Scholar
  6. Cartwright GE: Disorders of porphyrin metabolism, In Thorn GW, Adams RD, Braunwald E, et al (eds): Harrison’s Principals of Internal Medicine, ed 8. New York, McGraw-Hill, 1977a, pp 655–661.Google Scholar
  7. Cartwright GE: Hepatolenticular degeneration (Wilson’s disease), In Thorn GW, Adams RD, Braunwald E, et al (eds): Harrison’s Principals of Internal Medicine ed 8. New York, McGraw-Hill, 1977b, pp 661–664.Google Scholar
  8. Cartwright GE: Diagnosis of treatable Wilson’s disease. N Engl J Med 298: 1347–1350, 1978.PubMedCrossRefGoogle Scholar
  9. Cashman MD: Psychiatric aspects of acute porphyria. Lancet 1: 115–116, 1961.PubMedCrossRefGoogle Scholar
  10. Copeman SM: In Proceedings of the Pathological Society of London. Lancet 1: 197–200, 1891.Google Scholar
  11. Cross TN: Porphyria-A deceptive syndome. Am J Psychiatry 112: 1010–1014, 1956.PubMedGoogle Scholar
  12. Denny-Brown D: Hepatolenticular degeneration (Wilson’s disease), two different components. N Engl J Med 270: 1149–1156, 1964.PubMedCrossRefGoogle Scholar
  13. Dobyns WB, Goldstein NP, Gordon H: Clinical spectrum of Wilson’s disease (hepatolenticular degeneration). Mayo Clin Proc 54: 35–42, 1979.PubMedGoogle Scholar
  14. Duret-Cosyns S, Duret RL: Etudy psychiatrique de la porphyrie essentielle. Ann Med-Psychol 2: 193–197, 1959.Google Scholar
  15. Ebaugh FG, Holt JW: Porphyria and neuronal dysfunction. Am J Med Sci 245: 95–108, 1963.Google Scholar
  16. Eilenberg MD, Scobie BA: Prolonged neuropsychiatric disability and cardio-myopathy in acute intermittent porphyria. Lancet 1: 858–860, 1960.Google Scholar
  17. Eldahl A: A case of acute porphyria developing during hospitalization. Acta Med Scand 97: 415–417, 1938.CrossRefGoogle Scholar
  18. Fleming CR, Dickson ER, Wahner HW, et al: Pigmented corneal rings in non-Wilsonian liver disease. Ann Intern Med 86: 285–288, 1977.PubMedGoogle Scholar
  19. Francone CA: “My battle against Wilson’s disease.” Am J Nurs 76: 247–249, 1976.PubMedGoogle Scholar
  20. Goldstein NP, Ewert JC, Randall RV, et al: Psychiatric aspects of Wilson’s disease (hepatolenticular degeneration): Results of psychometric tests during long-term therapy. Am J Psychiatry 124: 1555–1561, 1968.PubMedGoogle Scholar
  21. Gunther H: Porphyrie (Hamatoporphyrie). Neue Dtsch Klin 14: 256–260, 1936.Google Scholar
  22. Hirsch S, Dunsworth FA: An interesting case of porphyria. Am J Psychiatry 111: 703, 1955.PubMedGoogle Scholar
  23. Hoogenraad TU, Vanden Hammer CJA, Koevoet R, et al: Oral zinc in Wilson’s disease. Lancet 2: 1262, 1978.PubMedCrossRefGoogle Scholar
  24. Keeler MH: A case of acute intermittent porphyria with hallucinations of geometric forms. J Nery Ment Dis 134: 572–574, 1962.CrossRefGoogle Scholar
  25. Luby ED, Ware JG, Senf R, et al: Stress and the precipitation of acute intermittent porphyria. Psychosom Med 21: 34, 1959.PubMedGoogle Scholar
  26. Macalpine I, Hunter R: The “insanity” of King George III: A classic case of porphyria. Br Med J 1: 65–71, 1966.PubMedCrossRefGoogle Scholar
  27. McEwin R, Lawn J, Jonas CT: Survey of porphyria among psychiatric patients. Med J Aust 2: 303–306, August 1972.PubMedGoogle Scholar
  28. Mann J: Acute porphyria provoked by barbiturates given with electroshock therapy. Am J Psychiatry 118: 509–511, 1961.PubMedGoogle Scholar
  29. Melby JD, Street JP, Watson CJ: Chlorpromazine in the treatment of porphyria. DAMA 162: 174–178, 1956.Google Scholar
  30. Monaco RN, Tuper RD, Robbins JJ, et al: Intermittent acute porphyria: Treatment with chlorpromazine. N Engl J Med 256: 309–311, 1957.PubMedCrossRefGoogle Scholar
  31. Olmstead EG: The neuropsychiatric aspects of abnormal porphyrin metabolism. J Nery Ment Dis 117: 300–302, 1953.CrossRefGoogle Scholar
  32. Rose JA, Hellman ES, Tschudy DP: Effective diet on the induction of experimental prophyria. Metabolism 10: 514–518, 1961.PubMedGoogle Scholar
  33. Roth N: The neuropsychiatric aspects of porphyria. Psychosom Med 7: 291–301, 1945.Google Scholar
  34. Roth N: The psychiatric syndromes of porphyria. Int J Neuropsychiatry 4: 32–44, 1968.PubMedGoogle Scholar
  35. Scheinberg IH: A psychogenetic anecdote. Psychosom Med 37: 368–371, 1975.PubMedGoogle Scholar
  36. Scheinberg IH, Sternlieb I: Wilson’s disease. Annu Rev Med 16: 119–134, 1965.PubMedCrossRefGoogle Scholar
  37. Schneck JM: Porphyria: Neuropsychiatric aspects in the case of a Negro. J Nery Ment Dis 104: 432–434, 1946.CrossRefGoogle Scholar
  38. Sternlieb IS, Scheinberg IH: Penicillamine therapy for hepatolenticular degeneration. DAMA 189: 748–754, 1964.Google Scholar
  39. Strickland GT, Frommer D, Leu M-L, et al: Wilson’s disease in the United Kingdom and Taiwan. Quart J Med 42: 619–638, 1973.PubMedGoogle Scholar
  40. Strickland GT, Leu M-L: Wilson’s disease: Clinical and laboratory manifestations in 40 patients. Medicine (Baltimore) 54: 113–137, 1975.Google Scholar
  41. Trafford PA: Homicide in acute porphyria. Forensic Sci 7: 113–120, 1976.PubMedCrossRefGoogle Scholar
  42. Vischer JS, Aldrich CK: Acute intermittent porphyria: A case study. Psychosom Med 16: 163–168, 1954.Google Scholar
  43. Waldenstrom J: Studien uber porphyrie. Acta Med Scand, supp 82, 1937.Google Scholar
  44. Werlin SL, Grand RJ, Perman JA, et al: Diagnostic dilemmas of Wilson’s disease: Diagnosis and treatment. Pediatrics 62: 47–51, 1978.PubMedGoogle Scholar
  45. Wetterberg L, Osterberg E: Acute intermittent porphyria: A psychometric study of 25 patients. J Psychosom Res 13: 91–93, 1969.PubMedCrossRefGoogle Scholar
  46. Whittaker SRF, Whitehead TP: Acute and latent porphyria. Lancet 1: 547–551, 1956.CrossRefGoogle Scholar
  47. Wilson SAK: Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver. Brain 34: 296–509, 1912.CrossRefGoogle Scholar

Copyright information

© Plenum Publishing Corporation 1981

Authors and Affiliations

  • James W. Jefferson
    • 1
  • John R. Marshall
    • 1
  1. 1.University of Wisconsin Medical SchoolMadisonUSA

Personalised recommendations