ALKAPTONURIA: REPORT OF 12 CASES
Authors: W J MARTIN, L O UNDERDAHL, D R MATHIESON, D G PUGH
Journal: Annals of Internal Medicine (1955)

Article1 May 1955ALKAPTONURIA: REPORT OF 12 CASESWILLIAM J. MARTIN, M.D., LAURENTIUS O. UNDERDAHL, M.D., DON R. MATHIESON, M.D., DAVID G. PUGH, M.D.WILLIAM J. MARTIN, M.D., LAURENTIUS O. UNDERDAHL, M.D., DON R. MATHIESON, M.D., DAVID G. PUGH, M.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-42-5-1052 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptFrom 1927 to 1953, inclusive, a period of 26 years, the diagnosis of alkaptonuria was made in only 12 cases at the Mayo Clinic. Moreover, the medical literature of the last 370 years contains only about 200 reports of cases.1 Three of the Mayo Clinic cases were reported in 1952.1 Preparation of this previous report prompted us to a more thorough investigation.Following are brief reports of the relevant data in the 12 cases.CASE REPORTSCase 1. Alkaptonuria was first recognized at the clinic in August, 1927. The patient was a white girl, 10½ years of age, whose chief...Bibliography1. MartinUnderdahlMathieson WJLODR: Alkaptonuria: report of 3 cases, Proc. Staff Meet., Mayo Clin. 27: 193, 1952. MedlineGoogle Scholar2. BoseGhosh JPS: Homogentisuria (alkaptonuria) with glycosuria: with notes on a detailed clinical and chemical investigation of a case, Indian M. Gaz. 64: 61, 1929. MedlineGoogle Scholar3. Boedeker : Über das Alkapton: Ein neuer Beitrag zur Frage: Welche Stoffe des Harns können Kupferreduction bewirken? Ztschr. f. rat. Med. s. 3, 7: 130, 1859. Google Scholar4. Virchow R: Ein Fall von allgemeiner Ochronose der Knorpel und knorpelähnlichen Theile, Virchows Arch. f. path. Anat. 37: 212, 1866. CrossrefGoogle Scholar5. Pieter H: Une famille d'alcaptonuriques, Presse méd. 33: 1310, 1925. Google Scholar6. HogbenWorrallZieve LRLI: The genetic basis of alkaptonuria, Proc. Roy. Soc. Edinburgh 52: 264, 1932. CrossrefGoogle Scholar7. KatschStern GG: Zur Theorie der alkaptonurischen Stoffwechselstörung, Deutsches Arch. f. klin. Med. 151: 329, 1926. Google Scholar8. EmbdenSalomonSchmidt G, quoted by Embden, G. and Baldes, K.: Über den Abbau des Phenylanalins im tierischen Organismus, Biochem. Ztschr. 55: 301, 1913. Google Scholar9. Smith JW: Ochronosis of the sclera and cornea complicating alkaptonuria: review of the literature and report of four cases, J. A. M. A. 120: 1282, 1942. CrossrefGoogle Scholar10. Skinsnes OK: Generalized ochronosis: report of an instance in which it was misdiagnosed as melanosarcoma, with resultant enucleation of an eye, Arch. Path. 45: 552, 1948. Google Scholar11. HenchBauerBolandCrainFreybergGrahamHolbrookLockieMcEwenRosenbergStecher PSWEWDCRHWWPLMCEFRM: Rheumatism and arthritis: review of American and English literature of recent years (Ninth Rheumatism Review), Part II, Ann. Int. Med. 28: 309, 1948. LinkGoogle Scholar12. Sealock RR quoted by Taggart, J. V., Bonner, D. M., Galdston, M., Mason, H. H., Pines, K. L., and Heath, F. K.: Inborn errors of metabolism, Am. J. Med. 8: 96, 1950. Google Scholar13. Fishberg EH: The instantaneous diagnosis of alkaptonuria on a single drop of urine, J. A. M. A. 119: 882, 1942. CrossrefGoogle Scholar14. Young HH: Calculi of the prostate associated with ochronosis and alkaptonuria, J. Urol. 51: 48, 1944. CrossrefGoogle Scholar15. Pick L: Ueber die Ochronose, Berl. klin. Wchnschr. 43: 478, 1906. Google Scholar16. HowardMills CPES: Ochronosis, in Christian, H. A.: The Oxford medicine, Vol. 4, part 3, 1941, Oxford University Press, New York, pp. 223-227(2). Google Scholar17. Berliner ML: Discussion, J. A. M. A. 120: 1288, 1942. Google Scholar18. SugarWaddell HSWW: Ochronosis-like pigmentation associated with the use of atabrine, Illinois M. J. 89: 234, 1946. MedlineGoogle Scholar19. Abbot LD: Alkaptonuria in a Negro family, Science, n. s. 94: 365, 1941. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Rochester, Minnesota*Received for publication September 20, 1954.From the Sections of Medicine, Clinical Pathology and Roentgenology of the Mayo Clinic and Mayo Foundation, Rochester, Minnesota. (The Mayo Foundation is a part of the Graduate School of the University of Minnesota.) PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byOn the ocular findings in ochronosis: a systematic review of literatureArthropathien bei weiteren metabolischen und ernährungsbedingten StörungenOchronosis: A case report with severe ochronotic arthropathyIntervertebral disc calcification in adults: A reviewBiochemical Identification of Homogentisic Acid Pigment in an Ochronotic Egyptian MummyOCULAR FINDINGS IN A CASE OF HEREDITARY OCHRONOSISBiochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathyOchronosis with Ruptured Lumbar DiscErbliche Fermentdefekte des AminosäurenstoffwechselsStudies on the pathogenesis of ochronotic arthropathyOchronosis: Report of a caseAngeborene StoffwechselkrankheitenThe significance of abnormality of the volume and of the composition of the urineAminoaciduria and Certain Related Disorders of Amino Acid MetabolismRHEUMATISM AND ARTHRITIS: REVIEW OF AMERICAN AND ENGLISH LITERATURE OF RECENT YEARS (TWELFTH RHEUMATISM REVIEW)* Part IICHARLEY J. SMYTH, M.D., F.A.C.P., JOSEPH J. BUNIM, M.D., F.A.C.P., WILLIAM S. CLARK, M.D., F.A.C.P., DARRELL C. CRAIN, M.D., F.A.C.P., FELIX E. DEMARTINI, M.D., IVAN F. DUFF, M.D., F.A.C.P., EPHRAIM P. ENGLEMAN, M.D., F.A.C.P., DONALD C. GRAHAM, M.D., F.R.C.P. (C), MAX M. MONTGOMERY, M.D., F.A.C.P., BERNARD M. NORCROSS, M.D., F.A.C.P., HOWARD F. POLLEY, MARIAN W. ROPES, M.D., F.A.C.P., EDWARD F. ROSENBERG, M.D., F.A.C.P.Heredofamiliäre Hyp- und Anenzymien ("Chemische Mißbildungen") 1 May 1955Volume 42, Issue 5Page: 1052-1064KeywordsClinical pathologyGraduate medical education ePublished: 1 December 2008 Issue Published: 1 May 1955 PDF downloadLoading ...