Abstract: Letters and Corrections1 December 1981Acute Intermittent PorphyriaKARL E. ANDERSON, M.D., SHIGERU SASSA, M.D., ATTALLAH KAPPAS, M.D.KARL E. ANDERSON, M.D.Search for more papers by this author, SHIGERU SASSA, M.D.Search for more papers by this author, ATTALLAH KAPPAS, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-95-6-784 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: Mustajoki (1) claims to have described a new variant of acute intermittent porphyria. This finding would be quite important if proved unequivocally, but such a claim is premature from the data presented. First, Mustajoki states that "no hematologic or other cause was found that could secondarily have raised low [porphobilinogen deaminase (also known as uroporphyrinogen-I synthase)] activity to normal." The patient of Case III-1, however, with the highest porphobilinogen deaminase activity among the subjects with porphyria, had a reticulocyte count of 5%, and three others had counts of 2.1% to 2.5%. An increased reticulocyte count is certainly...References1. MUSTAJOKI P. Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria. Ann Intern Med. 1981;95:162-6. LinkGoogle Scholar2. ANDERSONSASSAPETERSONKAPPAS KSCA. Increased erythrocyte uroporphyrinogen-I-synthetase, δ-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias. Am J Med. 1977;63:359-64. CrossrefMedlineGoogle Scholar3. SASSABERNSTEIN SS. Levels of δ-aminolevulinate dehydratase, uroporphyrinogen-I synthase and protoporphyrin IX in erythrocytes from anemic mutant mice. Proc Natl Acad Sci USA. 1977;74:1181-4. CrossrefMedlineGoogle Scholar4. SASSAGRANICKBICKERSLEVEREKAPPAS SSDRA. Studies on the inheritance of human erythrocyte δ-aminolevulinate dehydratase and uroporphyrinogen synthetase. Enzyme. 1973;16:326-33. CrossrefMedlineGoogle Scholar5. ANDERSONREDDYANDERSONDESNICK PRKR. Characterization of the porphobilinogen deaminase deficinency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect. J Clin Invest. 1981;68:1-12. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: The Rockefeller University Hospital New York, NY 10021 PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByA challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias 1 December 1981Volume 95, Issue 6Page: 784-785KeywordsPorphyriaReticulocytes Issue Published: 1 December 1981 PDF DownloadLoading ...
Publication Year: 1981
Publication Date: 1981-12-01
Language: en
Type: letter
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 2
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