A Genetic Study of Two Families Having the Acute Intermittent Type of Porphyria
Authors: GEORGE D. LUDWIG
Journal: Annals of Internal Medicine (1961)

Article1 July 1961A Genetic Study of Two Families Having the Acute Intermittent Type of PorphyriaGEORGE D. LUDWIG, M.D., I. SELIG EPSTEIN, M.D., F.A.C.P.GEORGE D. LUDWIG, M.D.Search for more papers by this author, I. SELIG EPSTEIN, M.D., F.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-55-1-81 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe prevalence of acute intermittent porphyria is greater than has been supposed, as a number of recent authors have emphasized (1-4), because so many cases with clinical expression of this disease are misdiagnosed, while almost all of the latent cases remain undetected. Recognition of the latent carriers of this genetic disease is of the utmost importance, since undiagnosed cases are in constant danger of taking, or of being given, barbiturates or other drugs that may precipitate or aggravate acute attacks and may result in permanent neurologic damage or even in death. Furthermore, when an acute attack develops, whether spontaneously or...References1. WALDENSTROM J: The porphyrins as inborn errors of metabolism. Amer. J. Med. 22: 758, 1957. CrossrefMedlineGoogle Scholar2. WHITTAKERWHITEHEAD SRTP: Acute and latent porphyria. Lancet 1: 547, 1956. CrossrefGoogle Scholar3. SAINTCURNOWPATONSTOKES EGDRJB: Diagnosis of acute porphyria. Brit. Med. J. 1: 1182, 1954. CrossrefMedlineGoogle Scholar4. SEIDE MJ: Porphyria. New Engl. J. Med. 258: 630, 1958. CrossrefMedlineGoogle Scholar5. WATSONSCHWARTZ CJS: A simple test for urinary porphobilinogen. Proc. Soc. Exp. Biol. Med. 47: 393, 1941. CrossrefGoogle Scholar6. WATSON CJ: Personal communication. 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CrossrefMedlineGoogle Scholar32. LUDWIG GD: Unpublished data. Google Scholar33. SCHWARTZBENNETTCURELOPBARTTER WBWSF: A syndrome of renal sodium loss and hyponatremia probably resulting from inappropriate secretion of anti-diuretic hormone. Amer. J. Med. 23: 529, 1957. CrossrefMedlineGoogle Scholar34. GOLDBERGHANDLER MJS: Hyponatremia and renal wasting of sodium in patients with malfunction of the central nervous system. New Engl. J. Med. 263: 1037, 1960. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: GEORGE D. LUDWIG, M.D.; I. SELIG EPSTEIN, M.D., F.A.C.P.Affiliations: Philadelphia, PennsylvaniaReceived for publication January 12, 1961.From the Department of Medicine, Hospital of the University of Pennsylvania, School of Medicine, University of Pennsylvania, Philadelphia, Pa.This work was supported in part by U. S. Public Health Service Grant A-2872 for Studies of Porphyrin Metabolism.cine, University of Pennsylvania, Philadelphia, Pa.Requests for reprints should be addressed to George D. Ludwig, M.D., University of Pennsylvania, Room 930 Maloney Bldg.3600 Spruce St., Philadelphia 4, Pa. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byKing George Ill's urine and indigo blueThe porphyriasLead Effects on the Heme Biosynthetic Pathway Relationship to ToxicityDrug-Induced Modulations of Hepatic Heme Metabolism Neurological ConsequencesReferencesL-Tryptophan: A Common Denominator of Biochemical and Neurological Events of Acute Hepatic Porphyria?The different types of porphyria in denmark and the importance of family studiesHereditary Hepatic Porphyrias in FinlandClinical and biochemical studies of hereditary hepatic porphyria in Chinese subjects in TaiwanThe clinical chemistry of the porphyriasAcute Intermittent Porphyria A Clinical and Laboratory Study of a Large FamilyWILLIAM H. MAHOOD, M.D., JOHN H. KILLOUGH, M.D., F.A.C.P.Hypercholesterolemia in experimental and human hepatic porphyriaFactors affecting the excretion of porphyrin precursors by patients with acute intermittent porphyria I. The effect of dietRENAL CALCULI ASSOCIATED WITH HYPEROXALURIA*HYPONATREMIA IN ACUTE INTERMITTENT PORPHYRIA PROBABLY RESULTING FROM INAPPROPRIATE SECRETION OF ANTIDIURETIC HORMONE*Übersichten und AllgemeinesInhibition of the Ehrlich's reaction of porphobilinogen by indican and related compoundsMedical genetics 1961 1 July 1961Volume 55, Issue 1Page: 81-93KeywordsDrugsExcretionGenetic diseasesGeneticsHospital medicineMedical servicesNiacinPorphyriaPorphyrins ePublished: 1 December 2008 Issue Published: 1 July 1961 PDF downloadLoading ...