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Homocystinuria Due to Cystathionine Synthase Deficiency

1965; American College of Physicians; Volume: 63; Issue: 6 Linguagem: Inglês

10.7326/0003-4819-63-6-1117

1539-3704

Leonard Laster,

Sulfur Compounds in Biology

Clinical Staff Conference1 December 1965Homocystinuria Due to Cystathionine Synthase DeficiencyCombined Clinical Staff Conference at the National Institutes of HealthLEONARD LASTER, M.D., GEORGE L. SPAETH, M.D., S. HARVEY MUDD, M.D., JAMES D. FINKELSTEIN, M.D.LEONARD LASTER, M.D.Search for more papers by this author, GEORGE L. SPAETH, M.D.Search for more papers by this author, S. HARVEY MUDD, M.D.Search for more papers by this author, JAMES D. FINKELSTEIN, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-63-6-1117 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptDr. Leonard Laster: In 1962, Carson and Neill (1) reported results of a survey in which samples of urine from 2,081 mentally retarded individuals in Northern Ireland were examined "by qualitative chemical tests and chromatographic techniques in order to detect any inborn errors of metabolism which might be a contributory factor responsible for brain damage in these people." They discovered two female siblings with similar clinical findings whose urine specimens gave positive reactions in the sodium nitroprusside-cyanide test (2) indicating an increased excretion of a sulfur-containing amino acid. Examination of the urinary amino acids by paper chromatography revealed that in...References1. 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FRIMPTER GW: Cystathioninuria: nature of the defect. Science 149: 1095, 1965. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Bethesda, MarylandThis is an edited transcription of a combined clinical staff conference at the Clinical Center, Bethesda, Md., by the National Institutes of Health, Public Health Service, U. S. Department of Health, Education, and Welfare.Requests for reprints should be addressed to Leonard Laster, M.D., Chief, Section on Gastroenterology, Metabolic Diseases Branch, National Institute of Arthritis and Metabolic Diseases Bldg. 10, Room 8-N-240, National Institutes of Health, Bethesda, Md. 20014. 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EDWIN SEEGMILLER, M.D., THEODORE FRIEDMANN, M.D., HAROLD E. HARRISON, M.D., VERNON WONG, M.D., JERRY A. SCHNEIDER, M.D.Methionine metabolism in mammalsThe AminoaciduriasTreatment of homocystinuria.General Neurophysiology (Biochemical Aspects)Abnormalities in the Metabolism of Sulfur-Containing Amino Acids 1 December 1965Volume 63, Issue 6Page: 1117-1143KeywordsAmino acidsChromatographyGeneticsHomocystinuriaInborn errors of metabolismIngestionMedical servicesPrevention, policy, and public healthSodiumUrine Issue Published: 1 December 1965 PDF downloadLoading ...