ALCAPTONURIA: CLINICAL STAFF CONFERENCE AT THE NATIONAL INSTITUTES OF HEALTH
Authors: J J BUNIM, J S McGUIRE, T F HILBISH, L LASTER, B N LA DU, J E SEEGMILLER
Journal: Annals of Internal Medicine (1957)

Clinical Staff Conference1 December 1957ALCAPTONURIA: CLINICAL STAFF CONFERENCE AT THE NATIONAL INSTITUTES OF HEALTHJOSEPH J. BUNIM, M.D., JOSEPH S. MCGUIRE JR., M.D., THEODORE F. HILBISH, M.D., LEONARD LASTER, M.D., BERT N. LA DU JR., M.D., J. EDWIN SEEGMILLER, M.D.JOSEPH J. BUNIM, M.D.Search for more papers by this author, JOSEPH S. MCGUIRE JR., M.D.Search for more papers by this author, THEODORE F. HILBISH, M.D.Search for more papers by this author, LEONARD LASTER, M.D.Search for more papers by this author, BERT N. LA DU JR., M.D.Search for more papers by this author, J. EDWIN SEEGMILLER, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-47-6-1210 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptDr. J. J. Bunim: Nearly 50 years ago, Garrod correctly concluded that failure to destroy homogentisic acid is a feature of the inborn error of metabolism characterizing alcaptonuria. It was also his belief that homogentisic acid is a normal intermediate compound in the oxidation of phenylalanine and tyrosine.1 The work to be presented today offers precise biochemical evidence for the validity of Garrod's insight.The case of ochronosis and alcaptonuria that will be described embodies in a way the name of the Institute of Arthritis and Metabolic Diseases. The investigations conducted represent an integration of clinical and biochemical studies that...Bibliography1. Garrod AE: Inborn errors of metabolism, 1909, Oxford University Press, London. Google Scholar2. Milch RA: Direct inheritance of alcaptonuria, Metabolism 4: 513, 1955. MedlineGoogle Scholar3. Lerner AB: Metabolism of phenylalanine and tyrosine, Advances in Enzymology 14: 73, 1953. MedlineGoogle Scholar4. Black RL: Use of cortisone in alkaptonuria, J. A. M. A. 155: 968, 1954. CrossrefMedlineGoogle Scholar5. La DuZannoniLasterSeegmiller BNVLJE: The nature of the defect in tyrosine metabolism in alcaptonuria, J. Biol. Chem., in press. Google Scholar6. KalckarAndersonIsselbacher HMEPKJ: Galactosemia, a congenital defect in a nucleotide transferase, a preliminary report, Proc. Nat. Acad. Sc. 42: 49, 1956. CrossrefMedlineGoogle Scholar7. Takahara S: Progressive oral gangrene probably due to lack of catalase in the blood (acatalasaemia), Lancet 2: 1101, 1952. CrossrefMedlineGoogle Scholar8. WallaceMoldaveMeister HWKA: Studies on conversion of phenylalanine to tyrosine in phenylpyruvic oligophrenia, Proc. Soc. Exper. Biol. and Med. 94: 632, 1957. CrossrefMedlineGoogle Scholar9. MitomaAuldUdenfriend CRMS: On the nature of enzymatic defect in phenylpyruvic oligophrenia, Proc. Soc. Exper. Biol. and Med. 94: 634, 1957. CrossrefMedlineGoogle Scholar10. CoriCori GTCF: Glucose-6-phosphatase of the liver in glycogen storage disease, J. Biol. Chem. 199: 661, 1952. CrossrefMedlineGoogle Scholar11. BeadleTatum GWEL: Genetic control of biochemical reactions in neurospora, Proc. Nat. Acad. Sc. 27: 499, 1941. CrossrefMedlineGoogle Scholar12. HenionSutherland WFEW: Immunological differences of phosphorylases, J. Biol. Chem. 224: 477, 1957. CrossrefMedlineGoogle Scholar13. Mason E, in Duncan, G. G.: Diseases of metabolism, 1952, W. B. Saunders Co., Philadelphia, p. 677. Google Scholar14. SealockGaldstonSteele RRMJM: Administration of ascorbic acid to an alkaptonuric patient, Proc. Soc. Exper. Biol. and Med. 44: 580, 1940. CrossrefGoogle Scholar15. Dent CE: Symposium on inborn errors in metabolism, Am. J. Med. 22: 671, 1957. CrossrefGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Bethesda, Maryland*Received for publication August 23, 1957.This is an edited transcription of a combined clinical staff conference at the Clinical Center, Bethesda, Maryland, by the National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Public Health Service, Department of Health, Education, and Welfare.Requests for reprints should be addressed to Joseph J. Bunim, M.D., National Institutes of Health, Bethesda 14, Maryland. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byMutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High PrevalenceAlkaptonuria: Case Report and Review of the LiteratureAscorbic acid and alkaptonuriaAutomated Determination of Catechol in UrineCalcification of the Auricular Cartilage in a Patient with Hypopituitarismthe LAB: How Routine Laboratory Studies Can Aid In Evaluation of Esoteric Pediatric DiseaseOchronosis from Quinacrine (Atabrine)GEORGE D. LUDWIG, M.D., JAMES F. TOOLE, M.D., JOHN C. WOOD, M.D.Erbliche Fermentdefekte des AminosäurenstoffwechselsCalcification of the Ear Cartilage Associated with the Hypercalcemia of SarcoidosisRHEUMATISM AND ARTHRITIS: REVIEW OF AMERICAN AND ENGLISH LITERATURE OF RECENT YEARS (THIRTEENTH RHEUMATISM REVIEW)*CHARLEY J. SMYTH, M.D., F.A.C.P., ROGER L. BLACK, M.D., 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., HOWARD F. POLLEY, M.D., F.A.C.P., EDWARD F. ROSENBERG, M.D., F.A.C.P., CARLOS F. SACASA, M.D., F.A.C.P., OTTO STEINBROCKER, M.D., HANS WAINE, M.D., GEORGE M. WILSON JR., M.D.Ochronosis: Report of a caseOchronosis Oculi in Alkaptonuria*Die Pathomorphologie der NierenausscheidungCaveat Scriptor 1 December 1957Volume 47, Issue 6Page: 1210-1224KeywordsArthritisGastroenterology and hepatologyHerniaInborn errors of metabolismMedical servicesMetabolic disordersPhenylalaninePrevention, policy, and public health ePublished: 1 December 2008 Issue Published: 1 December 1957 PDF downloadLoading ...