Acute Intermittent Porphyria
Authors: WILLIAM H. MAHOOD
Journal: Annals of Internal Medicine (1966)

Article1 February 1966Acute Intermittent PorphyriaA Clinical and Laboratory Study of a Large FamilyWILLIAM H. MAHOOD, M.D., JOHN H. KILLOUGH, M.D., F.A.C.P.WILLIAM H. MAHOOD, M.D.Search for more papers by this author, JOHN H. KILLOUGH, M.D., F.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-64-2-259 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptA cute intermittent porphyria has intrigued physicians since its first description in 1889 by Stokvis (1). It was first recognized as a hereditary disorder by Barker and Estes (2) in 1912; however, it was Waldenström (3) in 1937 who firmly established the familial incidence. It has since been shown to be expressed as a dominant character (4). The importance of detecting latent porphyria by studying the members of affected families has been stressed by several investigators (5-7). By protection from unnecessary operations and drugs that aggravate the disease, Waldenström (8) was able to reduce strikingly the mortality in one large...References1. STOKVIS BJ: Over twee zeldzame kleur stoffen in urine van zieken. Ned T. Geneesk 2: 409, 1889. Google Scholar2. BARKERESTES LFWL: Familial hematoporphyrinuria and its association with chronic gastroduodenal dilatation, peculiar fits and acute polyneuritis. JAMA 59: 719, 1912. Google Scholar3. WALDENSTRÖM J: Studien über porphyrie. Acta Med. Scand. Supplement, p. 82, 1937. Google Scholar4. GATES RR: Human Genetics. Macmillan Company, New York, 1946, p. 530. Google Scholar5. LUDWIGEPSTEIN GDIS: A genetic study of two families having the acute intermittent type of porphyria. Ann. Intern. Med. 55: 81, 1961. LinkGoogle Scholar6. SCHMID R: The porphyrias, in The Metabolic Basis of Inherited Disease, edited by STANBURY, J. B., WYNGAARDEN, J. B., FREDICKSON, D. S. McGraw-Hill Book Co., Inc., New York, 1960, p. 939. 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PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByEchocardiographic Changes in Cases of Intermittent Acute PorphyriaEnvironmental chemical exposures and disturbances of heme synthesis.KURZMITTEILUNGClinical and biochemical studies of hereditary hepatic porphyria in Chinese subjects in TaiwanDiagnostic Tests in the PorphyriasThe clinical chemistry of the porphyrias 1 February 1966Volume 64, Issue 2Page: 259-267KeywordsDrugsExcretionGeneticsMortalityPorphyria Issue Published: 1 February 1966 PDF DownloadLoading ...