THE IMPORTANCE OF EARLY DIAGNOSIS AND TREATMENT OF PHENYLKETONURIA
Authors: B N LA DU
Journal: Annals of Internal Medicine (1959)

Editorial1 December 1959THE IMPORTANCE OF EARLY DIAGNOSIS AND TREATMENT OF PHENYLKETONURIABERT N. LA DU, M.D., Ph.D.BERT N. LA DU, M.D., Ph.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-51-6-1427 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptIn the short space of 25 years since Fölling first identified phenylpyruvic acid in the urine of a mentally retarded patient,1 our knowledge of phenylketonuria has advanced remarkably. We now have an intimate understanding of its cause at a biochemical level, and as a result of this information, it has been possible to develop an effective means of therapy to prevent the mental deterioration which, until recently, had appeared to be inevitably associated with the metabolic defect.Phenylketonuria properly belongs in the group of diseases designated "inborn errors of metabolism" by Sir Archibald Garrod.2The well-documented hereditary pattern of this...1 Fölling A: Üeber Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität, Ztschr. f. physiol. Chem. 227: 169-176, 1934. CrossrefGoogle Scholar2 Garrod AE: Inborn errors of metabolism, 2nd Ed., 1923, H. Frowde and Hodder & Stoughton, Ltd., London. Google Scholar3 Jervis GA: Phenylpyruvic oligophrenia. Deficiency of phenylalanine oxidizing system, Proc. Soc. Exper. Biol. and Med. 82: 514-515, 1953. MedlineGoogle Scholar4 UdenfriendBessman SSP: The hydroxylation of phenylalanine and antipyrine in phenylpyruvic oligophrenia, J. Biol. Chem. 203: 961-966, 1953. CrossrefMedlineGoogle Scholar5 UdenfriendCooper SJR: The enzymatic conversion of phenylalanine to tyrosine, J. Biol. Chem. 194: 503-511, 1952. CrossrefMedlineGoogle Scholar6 Mitoma C: Studies on partially purified phenylalanine hydroxylase, Arch. Biochem. 60: 476-484, 1956. CrossrefMedlineGoogle Scholar7 Kaufman S: The enzymatic conversion of phenylalanine to tyrosine, J. Biol. Chem. 226: 511-524, 1958. CrossrefGoogle Scholar8 Kaufman S: Phenylalanine hydroxylation cofactor in phenylketonuria, Science 128: 1506-1507, 1958. CrossrefMedlineGoogle Scholar9 WallaceMoldaveMeister HWKA: Studies on conversion of phenylalanine to tyrosine in phenylpyruvic oligophrenia, Proc. Soc. Exper. Biol. and Med. 94: 632-633, 1957. CrossrefMedlineGoogle Scholar10 MitomaAuldUdenfriend CRMS: On the nature of the enzymatic defect in phenylpyruvic oligophrenia, Proc. Soc. Exper. Biol. and Med. 94: 634-635, 1957. CrossrefMedlineGoogle Scholar11 HsiaDriscollTrollKnox DYKWWE: Detection by phenylalanine tolerance tests of heterozygous carriers of phenylketonuria, Nature, London 178: 1239-1240, 1956. CrossrefMedlineGoogle Scholar12 HsiaPaine DYRS: Phenylketonuria: detection of the heterozygous carrier, J. Mental Deficiency Research 1: 53-65, 1957. MedlineGoogle Scholar13 BerrySutherlandGuest HBGM: Phenylalanine tolerance tests on relatives of phenylketonuric children, Am. J. Human Genet. 9: 310-316, 1957. MedlineGoogle Scholar14 KnoxMessinger WEEC: The detection in the heterozygote of the metabolic effect of the recessive gene for phenylketonuria, Am. J. Human Genet. 10: 53-60, 1958. MedlineGoogle Scholar15 Hsia DY: Phenylketonuria: the phenylalanine-tyrosine ratio in the detection of the heterozygous carrier, J. Mental Deficiency Research 2: 8-16, 1958. MedlineGoogle Scholar16 AlvordStevensonVogelEngle ECLDFSRL: Neuropathological findings in phenylpyruvic oligophrenia (phenylketonuria), J. Neuropath. and Exper. Neurol. 9: 298-310, 1950. CrossrefGoogle Scholar17 Poservan Bogaert CML: Neuropathic observations in phenylketonuria, Brain 82: 1-9, 1959. CrossrefMedlineGoogle Scholar18 BickelGerrardHickmans HJEM: Influence of phenylalanine intake on phenylketonuria, Lancet 2: 812-813, 1953. CrossrefGoogle Scholar19 BickelGerrardHickmans HJEM: The influence of phenylalanine intake on the chemistry and behavior of a phenylketonuric child, Acta pediat. 43: 64-77, 1954. CrossrefMedlineGoogle Scholar20 WoolfGriffithsMoncrieff LIRA: Treatment of phenylketonuria with a diet low in phenylalanine, Brit. M. J. 1: 57-64, 1955. CrossrefMedlineGoogle Scholar21 ArmstrongTyler MDFH: Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria, J. Clin. Investigation 34: 565-580, 1955. CrossrefMedlineGoogle Scholar22 Knox WE: Personal communication. Google Scholar23 WoolfGriffithsMoncrieffCoatesDillistone LIRASF: The dietary treatment of phenylketonuria, Arch. Dis. Childhood 33: 31-45, 1958. CrossrefMedlineGoogle Scholar24 PaineHsia RSDY: The dietary phenylalanine requirements and tolerances of phenylketonuric patients, J. Dis. Child. 94: 224-230, 1957. MedlineGoogle Scholar25 BerrySutherlandGuestUmbarger HKBSGMB: Chemical and clinical observations during treatment of children with phenylketonuria, Pediatrics 21: 929-940, 1958. MedlineGoogle Scholar26 BerryWoolf JPLI: Estimation of phenylpyruvic acid, Nature, London 169: 202-203, 1952. CrossrefMedlineGoogle Scholar27 TheFleuryVink TPPCL: Determination of phenylpyruvic acid in the urine of patients with oligophrenia phenylpyruvica, Clin. Chim. Acta 2: 424-428, 1957. CrossrefMedlineGoogle Scholar28 SaiferHarris AAF: Studies on the photometric determination of phenylpyruvic acid in urine, Clin. Chem. 5: 203-217, 1959. CrossrefMedlineGoogle Scholar29 PenroseQuastel LJH: Metabolic studies in phenylketonuria, Biochem. J. 31: 266-274, 1937. CrossrefMedlineGoogle Scholar30 Centerwall WR: An evaluation of testing methods used for phenylketonuria. A paper read before the 87th Annual Meeting of the American Public Health Association, Atlantic City, New Jersey, October 19-23, 1959. Google Scholar31 UdenfriendCooper SJR: Assay of L-phenylalanine as phenylethylamine after enzymatic decarboxylation; application to isotope studies, J. Biol. Chem. 203: 953-960, 1953. CrossrefMedlineGoogle Scholar32 Berry HK: Paper chromatographic method for estimation of phenylalanine, Proc. Soc. Exper. Biol. and Med. 95: 71-73, 1957. CrossrefMedlineGoogle Scholar33 La DuMichael BNPJ: An enzymatic spectrophotometric method for the determination of phenylalanine in blood, J. Lab. and Clin. Med., in press. Google Scholar34 Armstrong MD: Personal communication. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: *From the National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, U. S. Public Health Service, Bethesda, Maryland. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byAn approach to management of phenylketonuriaPhenylalaninePhenylketonuria: A reviewPhenylketonuriaThe Diagnosis of PhenylketonuriaMedical genetics 1959 1 December 1959Volume 51, Issue 6Page: 1427-1433KeywordsArthritisGenetic diseasesInborn errors of metabolismMedical servicesMetabolic disordersPhenylketonuriaPrevention, policy, and public healthUrine ePublished: 1 December 2008 Issue Published: 1 December 1959 PDF downloadLoading ...