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• W2028244286 abstract "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. CARSONNEILL NADW: Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch. Dis. Child. 37: 505, 1962. CrossrefMedlineGoogle Scholar2. BRANDHARRISBILOON EMMS: Cystinuria. The excretion of a cystine complex which decomposes in the urine with the liberation of free cystine. J. Biol. Chem. 86: 315, 1930. CrossrefGoogle Scholar3. GERRITSENVAUGHNWAISMAN TJGHA: The identification of homocystine in the urine. Biochem. Biophys. Res. Commun. 9: 493, 1962. CrossrefMedlineGoogle Scholar4. CARSONDENTFIELDGAULL NACECMGE: Homocystinuria. Clinical and pathological review of ten cases. J. Pediat. 66: 565, 1965. CrossrefMedlineGoogle Scholar5. SCHIMKEMCKUSICKHUANGPOLLACK RNVATAD: Homocystinuria. Studies of 20 families with 38 affected members. JAMA 193: 711, 1965. CrossrefMedlineGoogle Scholar6. SPAETHBARBER GLGW: Homocystinuria in a mentally-retarded child and her normal cousin. Trans. Amer. Acad. Ophthal. Otolaryng. 69: 912, 1965. MedlineGoogle Scholar7. KOMROWERWILSON GMVK: Homocystinuria. Proc. Roy. Soc. Med. 56: 996, 1963. CrossrefMedlineGoogle Scholar8. GERRITSENWAISMAN THA: Homocystinuria, an error in the metabolism of methionine. Pediatrics 33: 413, 1964. MedlineGoogle Scholar9. FIELDCARSONCUSWORTHDENTNEILL CMNADCCEDW: Homocystinuria. A new disorder of metabolism (abstract). Xth International Congress of Paediatrics, Lisbon, 1962, Almquist and Wiksells, Uppsala, Sweden, p. 274. Google Scholar10. CARSONCUSWORTHDENTFIELDNEILLWESTALL NADCCECMDWRG: Homocystinuria: A new inborn error of metabolism associated with mental deficiency. Arch. Dis. Child. 38: 425, 1963. CrossrefMedlineGoogle Scholar11. MEISTER A: Biochemistry of the Amino Acids. Academic Press, New York, 1957, p. 307. Google Scholar12. YOUNGMAW LGA: The Metabolism of Sulphur Compounds. Methuen, London, 1958, p. 59. Google Scholar13. DU VIGNEAUD V: A Trail of Research in Sulfur Chemistry and Metabolism. 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CrossrefMedlineGoogle Scholar25. LASTERMUDDFINKELSTEINIRREVERRE LSHJDF: Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine. J. Clin. Invest. 44: 1708, 1965. CrossrefMedlineGoogle Scholar26. MUELLER JH: A new sulfur-containing amino acid isolated from the hydrolytic products of protein. II. Sulfur excretion after ingestion. J. Biol. Chem. 58: 373, 1923. CrossrefGoogle Scholar27. LEMANNRELMAN JAS: The relation of sulfur metabolism to acid-base balance and electrolyte excretion: the effects of DL-methionine in normal man. J. Clin. Invest. 38: 2215, 1959. CrossrefMedlineGoogle Scholar28. FINKELSTEINMUDDIRREVERRELASTER JDSHFL: Homocystinuria due to cystathionine synthetase deficiency: the mode of inheritance. Science 146: 785, 1964. CrossrefMedlineGoogle Scholar29. PITOTPOTTERMORRIS HCVRHP: Metabolic adaptations in rat hepatomas. I. The effect of dietary protein on some inducible enzymes in liver and hepatoma 5123. Cancer Res. 21: 1001, 1961. 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SAYREGREENBERG FWDM: Purification and properties of serine and threonine dehydrases. J. Biol. Chem. 220: 787, 1956. CrossrefMedlineGoogle Scholar36. NISHIMURAGREENBERG JSDM: Purification and properties of L-threonine dehydrase of sheep liver. J. Biol. Chem. 236. 2684, 1961. CrossrefMedlineGoogle Scholar37. MUDDFINKELSTEINIRREVERRELASTER SHJDFL: Threonine dehydratase activity in humans lacking cystathionine synthase. Biochem. Biophys. Res. Commun. 19: 665, 1965. CrossrefMedlineGoogle Scholar38. MCDONALDBRAYFIELDLOVEDAVIES LCCFB: Homocystinuria, thrombosis, and the blood-platelets. Lancet 1: 745, 1964. CrossrefMedlineGoogle Scholar39. BERLOWEFRON SM: Studies in cystathioninuria. Presented at the meeting of the Midwest Society for Pediatric Research, Winnipeg, October 13, 1964. Google Scholar40. FINKELSTEINMUDDIRREVERRELASTER JDSHFL: Deficiencies of cystathionase and homoserine dehydratase activities in cystathioninuria. In preparation. Google Scholar41. 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. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byHomocysteine: A History in ProgressMolecular Biology of Cystathionine β-Synthase: Interrelationships with Homocysteine, Pyridoxine, and Vascular DiseaseVerwertbarkeit verschiedener Cysteinderivate bei langfristiger parenteraler ErnährungUtilization of glutathione disulfide as cysteine source during long-term parenteral nutrition in the growing ratUtilization of methionine and n-acetyl-l-cysteine during long-term parenteral nutrition in the growing ratImproved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblastsHomocystinuriaPhenylketonuria: Biochemical MechanismsHomocystinuriaEnzyme Defects in Sulfur Amino Acid Metabolism in ManMethionine metabolism in mammals: The biochemical basis for homocystinuriaHomocystinurieAbnormal Metabolism of Sulfur-Containing Amino Acids Associated with Brain DysfunctionHomocystinuria with methylmalonic aciduria: Two cases in a sibshipHOMOCYSTINURIA, ADDISONIAN PERNICIOUS ANÆMIA, AND PARTIAL DELETION OF A G CHROMOSOMEINTERPRETING THE ABORTION ACTSULPHUR METABOLISM TN RELATION TO CUTANEOUS DESEASE*AMINOACIDS, AMINES, AND RELATED COMPOUNDSSerum Concentrations and Renal Clearances of Amino Acids in Patients with Chronic Active HepatitisCystinosis Combined Clinical Staff Conference at the National Institutes of HealthJ. 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 ..." @default.
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