Stephen J. Schueler, M.D.

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Porphyria Intermittent Underlying Cause

Acute intermittent porphyria is an inherited disease: the body lacks an enzyme that is used to make hemoglobin out of molecules, called porphyrins. Porphyrins build up in the body when they are not used to make hemoglobin. High levels of porphyrins are toxic to the brain, nerves, skin and gastrointestinal tract. The illness can result in attacks of symptoms that may last for days to weeks.

Attacks of acute intermittent porphyria may be caused by:

Continue to Porphyria Intermittent Genetics

Last Updated: Nov 9, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Porphyria Intermittent References
  1. Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005 Mar 15;142(6):439-50. [15767622]
  2. Badminton MN, Elder GH. Management of acute and cutaneous porphyrias. Int J Clin Pract. 2002 May;56(4):272-8. [12074210]
  3. Elder GH, Hift RJ. Treatment of acute porphyria. Hosp Med. 2001 Jul;62(7):422-5. [11480131]
  4. Gonzalez-Arriaza HL, Bostwick JM. Acute porphyrias: a case report and review. Am J Psychiatry. 2003 Mar;160(3):450-9. [12611823]
  5. Kauppinen R. Porphyrias. Lancet. 2005 Jan 15-21;365(9455):241-52. [15652607]
  6. Sassa S. Diagnosis and therapy of acute intermittent porphyria. Blood Rev. 1996 Mar;10(1):53-8. [8861279]
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