AMINO-ACIDURIA WITH CYSTINOSIS: CASE REPORT WITH DETERMINATION OF URINARY AMINO ACIDS AND OCULAR CYSTINE
Authors: P L DERN
Journal: Annals of Internal Medicine (1957)

Case Reports1 January 1957AMINO-ACIDURIA WITH CYSTINOSIS: CASE REPORT WITH DETERMINATION OF URINARY AMINO ACIDS AND OCULAR CYSTINEPHILIP L. DERN, M.D.PHILIP L. DERN, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-46-1-138 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptIn 1936 Fanconi described a syndrome including rickets, nephrosis, glycosuria and hypophosphatemia.1His suspicion that the organic acids excreted in large amounts were amino acids was partially confirmed by McCune in 1943.2The later history of the disease parallels the development of more exact means of determining amino acids. Dent found that patients with the Fanconi syndrome excreted many different amino acids in the urine, yet blood levels of amino acids were normal.3He distinguished two general types of amino-aciduria: those associated with marked amino-acidemia, as in severe liver failure, and those in which blood levels were normal but a...Bibliography1. Fanconi G: Der frühinfantile nephrotisch-glycosurische Zwergwuchs mit hypophosphatämischer Rachitis, Jahrb. f. Kinderh. 147: 299-339, 1936. Google Scholar2. McCuneMasonClarke DJHHHT: Intractable hypophosphatemic rickets with renal glycosuria and acidosis (the Fanconi syndrome). Report of a case in which increased urinary organic acids were detected and identified, Am. J. Dis. Child. 65: 81-146, 1943. CrossrefGoogle Scholar3. Dent CE: The aminoaciduria in the Fanconi syndrome; a study making extensive use of techniques based on paper partition chromatography, Biochem. J. 41: 240-253, 1947. CrossrefMedlineGoogle Scholar4. 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CrossrefMedlineGoogle Scholar42. HyleCavary LJ: Renal response to ammonium chloride in glycosuric osteomalacia, J. Clin. Endocrinol. 16: 599-612, 1956. CrossrefGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: San Francisco, California*Received for publication July 29, 1955.†Resident, Medical Service, U. S. Veterans Administration Hospital, San Francisco, California.Requests for reprints should be addressed to Philip L. Dern, M.D., Department of Medicine, Otago University Medical School, Dunedin, New Zealand. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byAmino Aciduria 1 January 1957Volume 46, Issue 1Page: 138-144KeywordsAmino acidsBloodExcretionLesionsLiverMedical servicesOphthalmologyPediatricsUreaUrine ePublished: 1 December 2008 Issue Published: 1 January 1957 PDF downloadLoading ...