Abstract
Ever since its discovery by Fölling 50 years ago (Fölling, 1934), phenylketonuria (PKU), like a great teacher, has commanded the attention of a diverse group of devoted students.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Abelson, H. T., Gorka, C, and Beardsley, G. P., 1979, Identification of dihydropteridine reductase in human platelets, Blood 53:116–121.
Abita, J.-P., Dorche, C, and Kaufman, S., 1974, Further studies on the nature of phenylalanine hydroxylation in brain, J. Pediatr. Res. 8:714–717.
Abita, J.-P., Milstien, S., Chang, N., and Kaufman, S., 1976, In vitro activation of rat liver phenylalanine hydroxylase by phosphorylation, J. Biol. Chem. 251:5310–5314.
Adlard, B. P. F., deSouza, S. W., and Moon, S., 1973, The effect of age, growth retardation and asphyxia on ascorbic acid concentrations in developing brain, J. Neurochem. 21:872–881.
Ahmad, G., and Zamenhof, S., 1978, Serotonin as a growth factor for chick embryo, Brain 22:963–970.
Al-Janabi, J. M., 1980, Purification of rat liver phenylalanine hydroxylase by affinity chromatography, Arch. Biochem. Biophys. 200:603–608.
Armstrong, M. D., and Binkley, E. L., Jr., 1956, Studies on phenylketonuria. V. Observations on a newborn infant with phenylketonuria, Proc. Soc. Exp. Biol. Med. 93:418–420.
Armstrong, M. D., and Low, N. L., 1957, Phenylketonuria. VIII. Relation between age, serum phenylalanine level, and phenylpyruvic acid excretion, Proc. Soc. Exp. Biol. Med. 94:142–146.
Armstrong, M. D., and Robinson, K. S., 1954, On the excretion of indole derivatives in phenylketonuria, J. Clin. Invest. 34:565–580.
Armstrong, M. D., and Tyler, F. H., 1955, Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria, J. Clin. Invest. 34:565–580.
Auerbach, V. H., DiGeorge, A. M., and Carpenter, G. G., 1967, Phenylalaninemia, a study of diversity of disorders which produce elevation of blood levels of phenylalanine, in: Amino Acid Metabolism and Genetic Variation (W. L. Nyhan, ed.), pp. 11–68, McGraw-Hill, New York.
Axelrod, J., and Zatz, M., 1977, The β-adrenergic receptor and the regulation of circadian rhythms in the pineal gland, in: Biochemical Actions of Hormones, Vol. 4 (G. Litwack, ed.), pp. 249–268, Academic Press, New York.
Barranger, J. A., 1976, The implications of multiple forms of phenylalanine hydroxylase in phenylketonuria and related disease of phenylalanine metabolism, Biochem. Med. 15:55–86.
Barranger, J. A., Geiger, P. J., Huzino, A., and Bessman, S. P., 1972, Isozymes of phenylalanine hydroxylase, Science 175:903–905.
Bartholomé, K., 1974, A new molecular defect in phenylketonuria, Lancet ii:1580.
Bartholomé, K., 1979, Genetics and biochemistry of the phenylketonuria—Present state, Hum. Genet. 51:241–245.
Bartholomé, K., and Byrd, D. J., 1975, l-DOPA and 5-hydroxytryptophan therapy in phenylketonuria with normal phenylalanine hydroxylase activity, Lancet 2:1042.
Bartholomé, K., and Dresel, H. A., 1982, Studies on the molecular defect in phenylketonuria and hyperphenylalaninemia using antibodies against phenylalanine hydroxylase, J. Inherited Metab . Dis. 5:7–10.
Bartholomé, K., Lutz, P., and Bickel, H., 1975, Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia, Pediatr. Res. 9:899–903.
Bartholomé, K., Byrd, D. J., Kaufman, S., and Milstien, S., 1977, Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro, Pediatrics 59:757–761.
Berg, K., and Saugstad, L. F., 1974, A linkage study of phenylketonuria, Clin. Genet. 6:147–152.
Berman, J. L., Cunningham, G. C, Day, R. W., Ford, R., and Hsia, D. Y.-Y., 1969, Causes for high phenylalanine with normal tyrosine in newborn screening programs, Am. J. Dis. Child. 117:54–65.
Berry, H., Sutherland, B. S., and Guest, G. M., 1957, Phenylalanine tolerance tests on relatives of phenylketonuric children, Am. J. Hum. Genet. 9:310–316.
Berry, H. K., O’Grady, D. J., Perlmutter, L. J., and Bofinger, M. K., 1979, Intellectual development and academic achievement of children treated early for phenylketonuria, Dev. Med. Child. Neurol. 21:311–320.
Bessman, S. P., 1966, Legislation and advances in medical knowledge—Acceleration or inhibition? J. Pediatr. 69:334–338.
Bessman, S. P., and Tada, K., 1960, Indicanuria in phenylketonuria, Metabolism 9:377–385.
Bhattacharya, S. K., Robson, J. S., and Steward, C. P., 1955, Determination of glutathione in blood and tissues, Biochem. J. 60:696–702.
Bickel, H., Gerrard, J., and Hickmans, E. M., 1954, The influence of phenylalanine intake on the chemistry and behavior of a phenylketonuric child, Acta Paediatr. 45:64–11.
Bickel, H., Boscott, R. J., and Gerrard, J., 1955, Observations on the biochemical error in phenylketonuria and its dietary control, in: Biochemistry of the Developing Nervous System (H. Waelsch, ed.), p. 417, Academic, New York.
Birch, H. G., and Tizard, J., 1967, The dietary treatment of phenylketonuria: Not proven? Dev. Med. Child Neurol. 9:9–12.
Blaskovics, M. E., and Shaw, K. N. F., 1971, Hyperphenylalaninemia: Methods for differential diagnosis, in: Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism (H. Bickel, F. P. Hudson, and L. I. Woolf, eds.), pp. 98–102, GeorgThieme Verlag, Stuttgart, West Germany.
Blau, K., 1970, Aromatic acid excretion in phenylketonuria. Analysis of the unconjugated aromatic acids derived from phenylalanine, Clin. Chim. Acta 27:5–18.
Brenneman, A. R., and Kaufman, S., 1964, The role of tetrahydropteridines in the enzymatic conversion of tyrosine to 3,4-dihydroxyphenylalanine, Biochem. Biophys. Res. Commun. 17:177–183.
Brewster, T. G., Abroms, I. F., Kaufman, S., Breslow, J. L., Moskowitz, M. A., Villee, D. B., and Snodgrass, R. S., 1976, Atypical PKU, seizures, and developmental delay with dihydropteridine reductase deficiency, Pediatr. Res. 10:446.
Brewster, T. G., Moskowitz, M. A., Kaufman, S., Breslow, J. L., Milstien, S., and Abroms, I. F., 1979, Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia, Pediatrics 63:94–99.
Bublitz, C, 1969, A direct assay for liver phenylalanine hydroxylase, Biochim. Biophys. Acta 191:249–256.
Butler, I. J., Krumholz, A., Holtzman, N. A., Koslow, S. H., Kaufman, S., and Milstien, S., 1975, Dihydropteridine reductase deficiency variant of phenylketonuria: A disorder of neurotransmitters, Trans. Am. Neurol. Assoc. 100:43–47.
Butler, I. J., Koslow, S. H., Krumholz, A., Holtzman, N., and Kaufman, S., 1978, A disorder of biogenic amines in dihydropteridine reductase deficiency, Ann. Neurol. 3:224–230.
Butler, I. J., O’Flynn, M. E., Siefert, W. E., and Howell, R. R., 1981, Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia, J. Pediatr. 98:729–733.
Cabalska, B., Duczynska, N., Borzymowska, J., Zorska, K., Koslaxz-Folga, A., Koslacz-Folga, A., Boskowa, K., 1977, Termination of dietary treatment in phenylketonuria, Eur. J. Pediatr. 126:253–262.
Cahalane, S. F., 1968, Phenylketonuria: Mass screening of newborns in Ireland, Arch. Dis. Child 43:141–144.
Cartwright, E. C, and Danks, D. M., 1972, Phenylalanine hydroxylase activity in human foetal flbroblastic cells in culture, Biochim. Biophys. Acta 264:205–209.
Chalmers, R. A., and Watts, R. W. E., 1974, Quantitative studies on the urinary excretion of unconjugated aromatic acids in phenylketonuria, Clin. Chim. Acta 55:281–294.
Chauvin, M. M., Korri, K. K., Tirpak, A., Simpson, R. C, and Scrimgeour, K. G., 1979, Purification of dihydropterin reductase using immobilized Cibacron Blue, Can. J. Biochem. 57:178–187.
Cheema, S., Soldin, S. J., Knapp, A., Hofmann, T., and Scrimgeour, K. G., 1973, Properties of purified quinonoid dihydropterin reductase, Can. J. Biochem. 55:1229–1239.
Choo, K. H., and Cotton, R. G. H., 1979, Genetics of the mammalian hydroxylase system. II. Immunological and two-dimensional gel electrophoretic studies of phenylalanine hydroxylase in cultured normal and mutant rat hepatoma cells, Biochem. Genet. 17:921—946.
Colburn, T. R., Smith, B. M., Guarini, J. J., and Simmons, N. N., 1976, An ambulatory activity monitor with solid state memory, ISA (Instrum. Soc. Am.) Trans. 15:149–154.
Cotton, R. G. H., and Jennings, I. G., 1978, Affinity chromatography of phenylalanine hydroxylase, Eur. J. Biochem. 85:357–363.
Cowie, V. A., 1971, Neurological and psychiatric aspects of phenylketonuria, in: Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism (H. Bickel, F. P. Hudson, and L. I. Woolf, eds.), pp. 29–39, Georg Thieme Verlag, Stuttgart, West Germany.
Craine, J. E., Hall, E. S., and Kaufman, S., 1972, The isolation and characterization of dihydropteridine reductase from sheep liver, J. Biol. Chem. 247:6082–6091.
Crawfurd, M. D’A., Gibbs, D. A., and Sheppard, D. M., 1981, Studies on human phenylalanine mono-oxygenase. I. Restricted expression, J. Inherited Metab. Dis. 4:191–195.
Crome, L., and Pare, C. M. B., 1960, Phenylketonuria: A review and a report of the pathological findings in four cases, J. Ment. Sci. 106:862–883.
Curtius, H.-C, Vollmin, J. A., and Baerlocher, K., 1972, The use of deuterated phenylalanine for the elucidation of the phenylalanine-tyrosine metabolism, Clin. Chim. Acta 37:277–285.
Curtius, H. C, Niederwieser, A., Viscontini, M., Otten, A., Schaub, J., Scheibenreiter, S., and Schmidt, H., 1979, Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin, Clin. Chim. Acta 93:251–362.
Danks, D. M., Cotton, R. G. H., and Schlesinger, P., 1976, Variant forms of phenylketonuria, Lancet i: 1236–1237.
Danks, D. M., Bartholome, K., Clayton, B. E., Curtius, H., Gröbe, H., Kaufman, S., Leeming, R., Pfleiderer, W., Rembold, H., and Rey, F., 1978, Malignant hyperphen-ylalaninaemia—Current status (June 1977), J. Inherited Metab. Dis. 1:49–53.
Danks, D. M., Cotton, R. G. H., and Schlesinger, P., 1979a, Diagnosis of malignant hyperphenylalaninemia, Arch. Dis. Child. 54:329–330.
Danks, D. M., Schlesinger, P., Firgaira, F., Cotton, R. G. H., Watson, B. M., Rembold, H., and Hennings, G., 1979b, Malignant hyperphenylalaninemia. Clinical features, biochemical findings, and experience with administration of biopterins, Pediatr. Res. 13:1150–1155.
Dhont, J. L., Ardouin, P., Hayte, J. M., and Farriaux, J. P., 1981, Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism, Clin. Chim. Acta 116:143–152.
Dobson, J. C, Williamson, M. L., Azen, C, and Koch, R., 1977, Intellectual assessment of 111 four-year-old children with phenylketonuria, Pediatrics 60:822–827.
Donlon, J., and Kaufman, S., 1977, Modification of the multiple forms of rat hepatic phenylalanine hydroxylase by in vitro phosphorylation, Biochem. Biophys. Res. Commun. 78:1011–1017.
Donlon, J., and Kaufman, S., 1978, Clucagon stimulation of rat hepatic phenylalanine hydroxylase through phosphorylation in vivo, J. Biol. Chem. 253:6657–6659.
Donlon, J., and Kaufman, S., 1980, Relationship between the multiple forms of rat hepatic phenylalanine hydroxylase and degree of phosphorylation, J. Biol. Chem. 255:2146–2152.
Ehrenkranz, J. R. L., Tamarkin, L., Comite, F., Johnsonbaugh, R. E., Bybee, D. E., Loriaux, D. L., and Cutler, G. B., 1982, Daily rhythm of plasma melatonin (in) normal and precocious puberty, J. Clin. Endocrinol. Metab. 55:307–310.
Evered, D. F., 1956, The excretion of amino acids by the human, Biochem. J. 62:416–427.
Firgaira, F. A., Cotton, R. G. H., and Danks, D. M., 1979, Human dihydropteridine reductase. A method for the measurement of activity in cultured cells, and its application to malignant hyperphenylalaninemia, Clin. Chim. Acta 95:47–59.
Firgaira, F. A., Choo, K. H., Cotton, R. G. H., and Danks, D. M., 1981, Heterogeniety of the molecular defect in human dihydropteridine reductase deficiency, Biochem. J. 198:677–682.
Fisher, D. B., and Kaufman, S., 1972, Stimulation of rat liver phenylalanine hydroxylase by phospholipids, J. Biol. Chem. 247:2250–2252.
Fisher, D. B., and Kaufman, S., 1973, Tetrahydropterin oxidation without hydroxylation catalyzed by rat liver phenylalanine, J. Biol. Chem. 248:4300–4304.
Fisher, D. B., Kirkwood, R., and Kaufman, S., 1972, Rat liver phenylalanine hydroxylase, an iron enzyme, J. Biol. Chem. 247:5161–5167.
Fölling, A., 1934, Uber Ausscheidung von Phenylbrenztraubensaure in den Harm als Stoff-wechselanomalie in Verbindung mit Imbezillitat, Z. Physiol. Chem. 227:169–176.
Fölling, A., Closs, K., and Gammes, T., 1938, Vorlaufige Schlusselfolgerungen aus Belas-tungvershucher mit Phenylalanin an Menschen and Tieren, Z. Physiol. Chem. 256:1.
Friedman, P. A., and Kaufman, S., 1971, A study of the development of phenylalanine hydroxylase in fetuses of several mammalian species, Arch. Biochem. Biophys. 146:321–326.
Friedman, P. A., and Kaufman, S., 1973, Some characteristics of partially purified human liver phenylalanine hydroxylase, Biochim. Biophys. Acta 293:56–61.
Friedman, P. A., Kappelman, A. H., and Kaufman, S., 1972a, Partial purification and characterization of tryptophan hydroxylase from rabbit hindbrain, J. Biol. Chem. 247:4165–4173.
Friedman, P. A., Lloyd, T., and Kaufman, S., 1972b, Production of antibodies to rat liver phenylalanine hydroxylase: Cross-reactivity with other pterin-dependent hydroxylases, Mol. Pharmacol. 8:501–510.
Friedman, P. A., Kaufman, S., and Kang, E. S., 1972c, The nature of the molecular defect in PKU and hyperpehnylalaninemia, Nature 240:157–159.
Friedman, P. A., Fisher, D. B., Kang, E. S., and Kaufman, S., 1973, Detection hepatic phenylalanine 4-hydroxylase in classical phenylketonuria, Proc. Natl. Acad. Sci. USA 70:552–556.
Gal, E. M., Hanson, G., and Sherman, A., 1976, Biopterin. I. Profile and quantitation in rat brain, Neurochem. Res. 1:511.
Gal, E. M., Nelson, J. M., and Sherman, A. D., 1978, Biopterin III. Purification and characterization of enzymes involved in the cerebral synthesis of 7,8-dihydrobiopterin, Neurochem. Res. 3:69–88.
Gal, E. M., Bybee, J. A., and Sherman, A. D., 1979, Biopterin V. De novo synthesis of dihydrobiopterin: Evidence for its quinonoid structure and lack of dependence of its reduction to tetrahydrobiopterin on dihydrofolate reductase, J. Neurochem. 32:179–186.
Garrod, A. E., 1909, Inborn Errors of Metabolism, Oxford, London.
Gibbs, N. K., and Woolf, L. I., 1959, Tests for phenylketonuria—Results of a one year programme for its detection in infancy and among mental defectives, Br. Med. J. 2:532–535.
Gillam, S. S., Woo, S. L. C, and Woolf, L. I., 1974, The isolation and properties of phenylalanine hydroxylase from rat liver, Biochem. J. 139:731–739.
Giroud, A., Leblond, C. P., Ratsimanga, R., and Gero, E., 1938, Le taux normal en acide ascorbique, Bull. Soc. Chim. Biol. 20:1079–1087.
Gottschall, D. W., Dietrich, R. F., Benkovic, S. J., and Shiman, R., 1982, Phenylalanine hydroxylase—Correlation of the iron content with activity and the preparation and reconstitution of the apoenzyme, J. Biol. Chem. 257:845–849.
Grimm, U., Knapp, A., Schlenska, K., and Reddemann, H., 1975, Phenlylalaninhydrox-ylase-Aktivitat in der Leber als Parameter zur Untescheidung der Verschiedenen Former der Hyperphenylalaninamien, Clin. Chim. Acta 58:17–21.
Gröbe, H., Bartholome, K., Milstien, S., and Kaufman, S., 1978, Hyperphenylalaninemia due to dihydropteridine reductase deficiency, Eur. J. Pediatr. 551:1–6.
Guthrie, R., 1961, Blood screening for phenylketonuria, J. Am. Med. Assoc. 178:863.
Guttler, F., Kuhl, C, Pedersen, L., and Paby, P., 1978, Effects of oral phenylalanine load on plasma glucagon, insulin, amino acid and glucose concentrations in man, Scand. J. Clin. Invest. 38:255–260.
Hackney, I. M., Hanley, W. B., Davidson, W., and Linsao, L., 1968, Phenylketonuria: Mental development, behavior, and termination of low phenylalanine diet, J. Pediatr. 72:646–655.
Hasegawa, H., 1977, Dihydropteridine reductase from bovine liver. Purification, crystallization, and isolation of a binary complex with NADH, J. Biochem. 81:169–177.
Hasegawa, H., and Kaufman, S., 1982, Spontaneous activation of phenylalanine hydrox-ylase in rat liver extracts, J. Biol. Chem. 257:3084–3089.
Hofbauer, R. W., and Schrempf, G., 1976, Phenylalanine hydroxylation in cultured fibro-blasts from patients with phenylketonuria, Lancet 1976:2–194.
Hoffman, N. E., and Gooding, K. M., 1969, Gas chromatography of some urinary acid metabolites related to phenylketonuria, Anal. Biochem. 31:471–479.
Holtzman, N. A., Mellits, E. D., and Kallman, B. A., 1974a, Neonatal screening for phenylketonuria. II. Age dependence of initial phenylalanine in infants with PKU, Pediatrics 53:353–357.
Holtzman, N. A., Meek, A. G., Mellits, E. D., and Kallman, C. H., 1974b, Neonatal screening for phenylketonuria. III. Altered sex ratio; extent and possible causes, J. Pediatr. 25:175–181.
Holtzman, N. A., Welcher, D. W., and Mettis, E. D., 1975, Termination of restricted diet in children with phenylketonuria: A randomized controlled study, N. Engl. J. Med. 293:1121–1124.
Horner, F. A., Streamer, C. W., Alejaudrino, L. L., Reed, L. H., and Ibbott, F., 1962, The termination of dietary treatment of phenylketonuria, N. Engl. J. Med. 266:79–81.
Hreidarsson, S., Valle, D., Holtzman, N., Coyle, J., Singer, H., Kapatos, G., and Kaufman, S., 1982, A peripheral defect in biopterin synthesis: A new mutant?, Pediatr. Res. 16:192A.
Hsia, D. Y. Y., 1970, Phenylketonuria and its variants, Prog. Med. Genet. 7:29–68.
Hsia, D. Y. Y., and Dobson, J., 1970, Altered sex ratio among phenylketonuric infants ascertained by screening the newborn, Lancet 1:905–908.
Hsia, D. Y. Y., and Driscoll, K. W., 1956, Detection of the heterozygous carriers of phenylketonuria, Lancet 2:1337–1338.
Hsia, D. Y. Y., Knox, W. E., Quinn, K. V., and Paine, R. S., 1958, A one-year, controlled study of the effect of low-phenylalanine diet on phenylketonuria, Pediatrics 21:178–202.
Huang, C. Y., and Kaufman, S., 1973, Studies on the mechanisms of action of phenylalanine hydroxylase and its protein stimulator, J. Biol. Chem. 248:4242–4251.
Huang, C. Y., Max, E. E., and Kaufman, S., 1973, Purification and characterization of phenylalanine hydroxylase stimulating protein from rat liver, J. Biol. Chem. 248:4235–4241.
Hudson, F. P., 1967, Termination of dietary treatment of phenylketonuria, Arch. Dis. Child. 42:198–200.
Jakubovic, A., 1971, Phenylalanine hydroxylating system in the human fetus at different developmental ages, Biochim. Biophys. Acta 237:469–475.
Jedlicki, E., Kaufman, S., and Milstien, S., 1977, Partial purification and characterization of rat liver phenylalanine hydroxylase phosphatase, J. Biol. Chem. 252:7711–7714.
Jervis, G. A., 1939, The genetics of phenylpyruvic oligophrenia, J. Ment. Sci. 85:719–762.
Jervis, G. A., 1947, Studies on phenylpyruvic oligophrenia. The position of the metabolic error, J. Biol. Chem. 169:651–656.
Jervis, G. A., 1953, Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system, Proc. Soc. Exp. Biol. Med. 82:514–515.
Jervis, G. A., 1954, Phenylpyruvic oligophrenia (phenylketonuria), Res. Publ. As soc. Res. Nerv. Ment. Dis. 33:259–282.
Jervis, G. A., 1960, Detection of heterozygots for phenylketonuria, Clin. Chim. Acta 5:471–476.
Justice, P., O’Flynn, M. E., and Hsia, D. Y. Y., 1967, Phenylalanine hydroxylase activity in hyperphenylalaninemia, Lancet 1:928–929.
Kamaryt, J., Mrskos, A., Podhradska, O., Kolcova, V., Cabalska, B., Duczynska, N., and Borzymowska, J., 1978, PKU locus: Genetic linkage with human amylase (Amy) loci and assignment to linkage group I, Hum. Genet. 43:205–210.
Kang, E. S., Kaufman, S., and Gerald, P. S., 1970, Clinical and biochemical observations of patients with atypical phenylketonuria, Pediatrics 45:83–92.
Kapatos, G., and Kaufman, S., 1981, Peripherally administered reduced pterins do enter the brain, Science 212:955–956.
Kapatos, G., Katoh, S., and Kaufman, S., 1982, Biosynthesis of biopterin by rat brain, J. Neurochem. 39:1152–1162.
Kapatos, G., Kaufman, S., Weller, J. L., and Klein, D. C, 1983, The development tetrahydrobiopterin and guanosine-5’-triphosphate cyclohydrolase: Differential patterns in rat brain and pineal gland, Brain Res. 258:351–355.
Kaufman, S., 1957, The enzymatic conversion of phenylalanine to tyrosine, J. Biol. Chem. 226:511–524.
Kaufman, S., 1958a, A new cofactor required for the enzymatic conversion of phenylalanine to tyrosine, J. Biol. Chem. 230:931–939.
Kaufman, S., 1958b, Phenylalanine hydroxylation cofactor in phenylketonuria, Science 128:1506.
Kaufman, S., 1959, Studies on the mechanism of the enzymatic conversion of phenylalanine to tyrosine, J. Biol. Chem. 234:2677–2682.
Kaufman, S., 1962, Aromatic hydroxylation, in: Oxygenases (O. Hayaishi, ed.), pp. 129—179, Academic, New York.
Kaufman, S., 1963, The structure of phenylalanine hydroxylation cofactor, Proc. Natl. Acad. Sci. USA 50:1085–1093.
Kaufman, S., 1964, Further studies on the structure of the primary oxidation product formed from tetrahydropteridines during phenylalanine hydroxylation, J. Biol. Chem. 239:332–338.
Kaufman, S., 1967a, Unanswered questions in the primary metabolic block in phenylketonuria, in: Phenylketonuria and Allied Metabolic Diseases (J. A. Anderson and K. F. Swaiman, eds.), pp. 205–213, U.S. Government Printing Office.
Kaufman, S., 1967b, Metabolism of the phenylalanine hydroxylation cofactor, J. Biol. Chem. 242:3934–3943.
Kaufman, S., 1969, Phenylalanine hydroxylase of human liver: Assay and some properties, Arch. Biochem. Biophys. 134:249–252.
Kaufman, S., 1970, A protein that stimulates rat liver phenylalanine hydroxylase, J. Biol. Chem. 245:4751–4759.
Kaufman, S., 1971, The phenylalanine hydroxylating system from mammalian liver, in: Advances in Enzymology, Vol. 35 (A. Meister, ed.), pp. 245–320, Wiley, New York.
Kaufman, S., 1975a, Studies on the mechanism of phenylalanine hydroxylase. Detection of an intermediate, in: Chemistry and Biology of Pteridines (W. Pfleiderer, ed.), pp. 291–304, Walter de Gruyter, Berlin.
Kaufman, S., 1975b, Pterin administration as a therapy for PKU due to dihydropteridine reductase deficiency, Lancet 1:767.
Kaufman, S., 1977, Phenylketonuria: Biochemical mechanisms, in: Advances in Neurochemistry, Vol. 2 (B. W. Agranoff and M. H. Aprison, eds.), pp. 1–32, Plenum Press, New York.
Kaufman, S., 1979, Biopterin and metabolic disease, in: Chemistry and Biology of Pteridines (R. L. Kisliuk and G. M. Brown, eds.), pp. 117–124, Elsevier/North-Holland, New York.
Kaufman, S., 1980, Differential diagnosis of variant forms of hyperphenylalaninemia, Pediatrics 65:840–842.
Kaufman, S., 1981, Variant forms of phenylketonuria caused by a deficiency of tetrahydrobiopterin, presented at the 6th International Congress on Human Genetics, Jerusalem, Israel.
Kaufman S., and Fisher, D. B., 1970, Purification and some physical properties of phenylalanine hydroxylase from rat liver, J. Biol. Chem. 245:4745–4750.
Kaufman, S., and Fisher, D. B., 1974, Pterin-requiring aromatic amino acid hydroxylases, in: Molecular Mechanisms of Oxygen Activation (O. Hayaishi, ed.), pp. 285–369, Academic, New York.
Kaufman, S., and Levenberg, B., 1959, Further studies on the phenylalanine hydroxylation cofactor, J. Biol. Chem. 234:2683–2688.
Kaufman, S., and Max, E. E., 1971, Studies on the phenylalanine hydroxylating system in human liver and their relationship to pathogenesis of PKU and hyperphenylalaninemia, in: Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism (H. Bickel, F. P. Hudson, and L. I. Woolf, eds.), pp. 13–19, Georg Thieme Verlag, Stuttgart, West Germany.
Kaufman, S., Holtzman, N., Milstien, S., Butler, I. J., and Krumholz, A., 1975a, Phenylketonuria due to a deficiency of dihydropteridine reductase, N. Engl. J. Med. 293:785–789.
Kaufman, S., Milstien, S., and Bartholome, K., 1975b, New forms of phenylketonuria, Lancet 1:708.
Kaufman, S., Max, E. E., and Kang, E. S., 1975c, Phenylalanine hydroxylase activity in liver biopsies from hyperphenylalaninemia heterozygotes: Deviation from porportionality with gene dosage, Pediatr. Res. 9:632–634.
Kaufman, S., Berlow, S., Summer, G. K., Milstien, S., Schulman, J. D., Orloff, S., Spielberg, S., and Pueschel, S., 1978, Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria, N. Engl. J. Med. 299:673–679.
Kaufman, S., Milstien, S., and Bartholome, K., 1979, N. Engl. J. Med. 300:198–199.
Kaufman, S., Hasegawa, H., Wilgus, H., and Parniak, M., 1981, Regulation of hepatic phenylalanine hydroxylase activity by phosphorylation and dephosphorylation, in: Cold Spring Harbor Conferences on Cell Proliferation, Vol. 8, Protein Phosphorylation (O. M. Rosen and E. G. Krebs, eds.), pp. 1391–1406, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
Kaufman, S., Kapatos, G., Mclnnes, R. R., Schulman, J. D., and Rizzo, W. B., 1982, The use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: Evidence that peripherally administered tetrahydropterins enter the brain, Pediatrics 70:376–380.
Kenney, F. T., and Kretchmer, N., 1959, Hepatic metabolism of phenylalanine during development, J. Clin. Invest. 38:2189–2196.
Kettler, R., Bartholini, G., and Pletscher, A., 1974, In vivo enhancement of tyrosine hydroxylation in rat striatum by tetrahydrobiopterin, Nature 249:497–477.
Knox, W. E., 1972, Phenylketonuria, in: The Metabolic Basis of Inherited Disease (J. B. Wyngaarden and D. S. Fredrickson, eds.), pp. 266–295, McGraw-Hill, New York.
Knox, W. E., and Messinger, E., 1958, The detection on the metabolic effect of the recessive gene for phenylketonuria, Am. J. Hum. Genet. 10:53–60.
Koff, E., Kammerer, B., Boule, P., and Pueschel, S. M., 1979, Intelligence and phenylketonuria: Effects of diet termination, J. Pediatr. 94:534–537.
Kuhl, P., Olek, K., Wardenbach, P., and Grzeschik, K.-H., 1979, Assignment of a gene human quinoid-dihydropteridine reductase (QDPR, EC1.6.5.1) to chromosome 4. Hum. Genet. 53:47–49.
Lauder, J. M., and Krebs, H., 1978, Serotonin as a differentiation signal in early neurogenesis, Dev. Neurosci. 1:15–30.
Leeming, R. J., and Smith, I., 1979, N. Engl. J. Med. 300:198–199.
Leeming, R. J., Blair, J. A., Green, A., and Raine, D. N., 1976, Biopterin derivatives in normal and phenylketonuric patients after oral loads of l-phenylalanine, l-tyrosine, and l-tryptophan, Arch. Dis. Child. 51:771–777.
Linneweh, F., and Ehrlich, M., 1962, Zur pathogenese des Schwachsinns bei Phenylketonurie, Klin. Wochenschr. 40:225–226.
Malamud, N., 1966, Neuropathology of phenylketonuria, J. Neuropathol. Exp. Neurol. 25:254–268.
Matalon, R., Justice, P., and Deanching, M. N., 1977, Phenylalanine hydroxylase in human placenta: Novel system for study of phenylketonuria, Lancet 1:853–854.
Matthews, R. G., and Kaufman, S., 1980, Characterization of the dihydropterin reductase activity in pig liver methylenetetrahydrofolate reductase, J. Biol. Chem. 255:6014–6017.
Mclnnes, R., Kaufman, S., Warsh, J. J., Milstien, S., Van Loon, G., Slyper, A., and Sherwood, G., 1979, Neurotransmitter metabolites and plasma catechols in biopterin deficiency. Pediatr. Res. 13:422.
McKean, C. M., 1972, The effects of high phenylalanine concentrations on serotonin and catecholamine metabolism in the human brain, Brain Res. 47:469–476.
Menkes, J. H., 1968, Cerebral proteolipids in phenylketonuria, Neurology 18:1003–1008.
Milstien S., and Kaufman, S., 1975a, Studies on the phenylalanine hydroxylase system in vivo: An in vivo essay based on the liberation of deuterium or tritium into the body water from ring-labelled l-phenylalanine, J. Biol. Chem. 250:4782–4785.
Milstien, S., and Kaufman, S., 1975b, Studies on the phenylalanine hydroxylase system in liver slices, J. Biol. Chem. 250:4777–4781.
Milstien, S., and Kaufman, S., 1975c, Production of antibodies to sheep liver dihydropterine reductase: Characterization and use to study the enzyme defect in a variant form of phenylketonuria, Biochem. Biophys. Res. Commun. 66:475–481.
Milstien, S., Holtzman, N. A., O’Flynn, M. E., Thomas, G. H., Butler, I. J., and Kaufman, S., 1976, Hyperphenylalaninemia due to dihydropteridine reductase deficiency, J. Pediatr. 89:763–766.
Milstien, S., Orloff, S., Spielberg, S., Berlow, S., Schulman, J., and Kaufman, S., 1977, Hyperphenylalaninemia due to phenylalanine hydroxylase cofactor deficiency, Pediatr. Res. 11:460.
Milstien, S., Kaufman, S., and Summer, G. K., 1980, Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Diagnosis by measurement of oxidized and reduced pterins in urine, Pediatrics 65:806–810.
Mitoma, C, 1956, Studies on partially purified phenylalanine hydroxylase, Arch. Biochem. 60:476–484.
Mitoma, C, Auld, R. M., and Udenfriend, S., 1957, On the nature of enzymatic defect in phenylpyruvic oligophrenia, Proc. Soc. Exp. Biol. Med. 94:634–635.
Moron, M. S., DePierre, J. W., and Mannervik, B., 1979, Levels of glutathione reductase and glutathione-5-transferase activities in rat lung and liver, Biochim. Biophys. Ada 582:67–78.
Nakanishi, N., Hasegawa, H., and Watabe, S., 1977, A new enzyme, NADPH-dihydropteridine reductase in bovine liver, J. Biochem. 81:681–685.
Nakata, H., and Fujisawa, H., 1980, Purification and characterization of phenylalanine 4-monoxygenase from rat liver, Biochim Biophys. Ada 614:313–327.
Narisawa, K., Arai, N., Ishizawa, S., Ogasawara, Y., Onuma, A., Ilnuma, K., and Tada, K., 1980, Dihydropteridine reductase deficiency: Diagnosis by leukocyte enzyme assay, Clin. Chim. Acta 105:335–342.
Narisawa, K., Arai, N., Hayakawa, H., and Tada, K., 1981, Diagnosis of dihydropteridine reductase deficiency by erythrocyte assay, Pediatrics 68:591–592.
Niederwieser, A., Curtius, H. C, Bettoni, O., Bieri, J., Schircks, B., Viscontini, M., and Schaub, J., 1979, Atypical phenylketonuria caused by 7,8-dihydrobiopterin synthetase deficiency, Lancet 1:131–133.
Niederwieser, A., Curtius, H.-Ch., Gitzelmann, Otten, A., Baerlocher, K., Blehova, B., Berlow, S., Grobe, H., Rey, F., Schaub, J., Scheibenreiter, S., Schmidt, H., and Viscontini, M., 1980, Excretion of pterins in phenylketonuria and phenylketonuria variants, Helv. Paediatr. Acta 305:335–342.
Niederwieser, A., Staudenman, W., Wang, M., Curtius, H.-Ch., Atares, M., and Cardesa-Garcia, J., 1982, Hyperphenylalaninemia with neopterin deficiency—A new enzyme defect presumably of GTP cyclohydrolase, Eur. J. Pediatr. 138:97.
Nielsen, K. H., Simonsen, V., and Lind, K. E., 1969, Dihydropteridine reductase. A method for the measurement of activity and investigations of the specificity for NADH and NADPH, Eur. J. Biochem. 9:497–502.
Nixon, J. C, Lee, C.-L., Milstien, S., Kaufman, S., and Bartholomé, K., 1980, Neopterin and biopterin levels in patients with atypical forms of phenylketonuria, J. Neurochem. 35:898–904.
Paine, R. A., 1957, The viability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria), Pediatrics 20:290–301.
Parker, C. E., Barranger, J., Newhouse, R., and Bessman, S., 1977, Studies of the isoenzymes of PAH in humans, Biochem. Med. 17:8–12.
Partington, M. W., 1962, Variations in intelligence in phenylketonuria, Can. Med. Assoc. J. 86:736–743.
Patterson, E. L., von Saltza, M. H., and Stokstad, E. L., 1956, The isolation and characterization of a pteridine required for the growth of Crithidiafasiculata, J. Am. Chem. Soc. 78:5871–5873.
Paul, T. D., Brandt, I. K., Elsas, L. J., Jackson, C. E., Mamunes, P., Nance, C. S., and Nance, W. E., 1978, Phenylketonuria heterozygote detection in families with affected children, Am. J. Hum. Gen. 30:293–301.
Penrose, L., and Quastel, J. H., 1937, Metabolic studies in phenylketonuria, Biochem. J. 31:266–274.
Perry, T. L., Hansen, S., Tischler, B., and Bunting, R., 1967a, Determination of heterozygosity for phenylketonuria on the amino acid analyzer, Clin. Chim. Acta 18:51–56.
Perry, T. L., Tischler, B., Hansen, S., and MacDougall, L., 1967b, A simple test for heterozygosity for phenylketonuria, Clin. Chim. Acta 15:47–50.
Perry, T. L., Sander, H. D., Hansen, S., Lesk, D., Klaster, M., and Gravlin, L., 1972, Free amino acids and related compounds in five regions of biopsied cat brain, J. Neurochem. 19:2651–2656.
Pollock, R. J., and Kaufman, S., 1978, Dihydropteridine reductase may function in tetrahydrofolate metabolism, J. Neurochem. 31:115–123.
Poser, C. M., and Van Bogaert, L., 1959, Neuropathologic observations in phenylketonuria, Brain 82:1–9.
Räihä, N. C. R., 1973, Phenylalanine hydroxylase in human liver during development, Pediatr. Res. 7:1–4.
Rao, D. C, Keats, B. J., Laloud, J. M., Morton, N. E., and Yee, S., 1979, A maximum likelihood map for chromosome 1, Am. J. Hum. Genet. 31:680–696.
Rembold, H., and Buff, K., 1972, Tetrahydrobiopterin, a cofactor in mitochondrial electron transfer, Eur. J. Biochem. 28:579–585.
Rey, F., Pellie, C, Sivy, M., Blandin-Savoja, F., Rey, J., and Frezal, J., 1974, Influence of age on ortho-hydroxyphenylacetic acid excretion in phenylketonuria and its genetic variants, Pediatr. Res. 8:540–545.
Rey, F., Blandin-Savoja, F., and Rey, J. 1976, Atypical phenylketonuria with normal dihydropteridine reductase activity, N. Engl. J. Med. 295:1138–1139.
Rey, F., Harpey, J.-P., Leeming, R.-J., Blair, J.-A., Aircardi, J., and Rey, J., 1977, Les hyperphenylalaninemies avec activite normale de la phenylalanine-hydroxylase, Arch. Fr. Pediatr. 34:cix-cxx.
Rose, W. G., and Wixom, R. L., 1955, The amino acid requirements of man. XIV. The sparing effect of tyrosine on the phenylalanine requirement, J. Biol. Chem. 217:95–101.
Rosenberg, R. N., 1981, Biochemical genetics of neurological disease, N. Engl. J. Med. 305:1181–1193.
Rosenblatt, D., and Scriver, C. R., 1968, Heterogeneity in genetic control of phenylalanine metabolism in man, Nature 218:677–678.
Saugstad, L. F., 1972, Birth weights in children with phenylketonuria and in their siblings, Lancet 1:809–813.
Schaub, J., Daumling, S., Curtius, H.-C, Niederwieser, A., Bartholome, K., Viscontini, M., Schircks, B., and Bieri, J. H., 1978, Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis, Arch. Dis. Child. 53:674–676.
Scrimgeour, K. G., and Cheema, S., 1971, Quinoid dihydropterin reductase, Ann. N. Y. Acad. Sci. 186:115–118.
Scriver, C. R., and Clow, C. L., 1980a, Phenylketonuria: Epitome of human biochemical genetics, N. Engl. J. Med. 303:1336–1342; 1394–1400.
Scriver, C. R., and Clow, C. L., 1980b, Phenylketonuria and other phenylalanine hydroxylase mutants in man, Annu. Rev. Genet. 14:179–202.
Scriver, C. R., and Rosenberg, L. E., 1973, Amino Acid Metabolism and Its Disorders. Saunders, Philadelphia.
Seifert, W. E., Foxx, J. L., and Butler, I. J., 1980, Age effect on dopamine and serotonin metabolite levels, Ann. Neurol. 8:38–42.
Shen, R.-S., and Abell, C. W., 1981, Purification of dihydropteridine reductase human platelets, J. Neurosci. Res. 6:193–201.
Shiman, R., Akino, M., and Kaufman, S., 1971, Solubilization and partial purification of tyrosine hydroxylase from bovine adrenal medulla, J. Biol. Chem. 246:1330–1340.
Shiman, R., Gray, D. W., and Pater, A., 1979, A simple purification of phenylalanine hydroxylase by substrate induced hydrophobic chromatography, J. Biol. Chem. 254:11300–11306.
Smith, I., 1974, Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment, Arch. Dis. Child. 49:245.
Smith, I., and Woolf, O. H., 1974, Natural history of phenylketonuria and influence of early treatment, Lancet 2:540–544.
Smith, I., Clayton, B. E., and Wolff, O. H., 1975, A variant of phenylketonuria, Lancet 1:328–329.
Smith, I., Lobascher, M. E., Stevenson, J. E., Wolff, O. H., Schmidt, H., Grubel-Kaiser, S., and Bickel, H., 1978, Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria, Br. Med. J. 2:723–726.
Snyderman, S. E., Pratt, E. L., Cheung, M. W., Norton, P. M., Holt, L. E., Jr., Hansen, A. E., and Panos, T. C, 1955, The phenylalanine requirement of the normal infant J. Nutr. 56:253–263.
Stein, W. H., and Moore, S., 1954, The free amino of human blood and plasma, J. Biol. Chem. 211:915–926.
Stein, W. H., Beam, A. G., and Moore, S., 1954, The amino acid content of the blood and urine in Wilson’s disease, J. Clin. Invest. 33:410–419.
Thalhammer, O., Havelec, L., Knoll, E., and Wehle, E., 1977, Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU), Hum. Genet. 38:285–288.
Tietz, A., Lindberg, M., and Kennedy, E. P., 1964, A new pteridine-requiring enzyme system for the oxidation of glyceryl-ethers, J. Biol. Chem. 239:4081–4090.
Tong, J. H., and Kaufman, S., 1975, Tryptophan hydroxylase. Purification and some properties of the enzyme from rabbit hindbrain, J. Biol. Chem. 250(11):4152–4158.
Tourian, A., and Sidbury, J. B., 1982, Phenylketonuria and hyperphenylalaninemia, in: The Metabolic Basis of Inherited Disease, 5th ed. (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein, and M. S. Brown eds.), McGraw-Hill, New York.
Tourian, A., Goddard, J., and Puck, T. T., 1969, Phenylalanine hydroxylase activity in mammalian cells, J. Cell. Physiol. 73:159–170.
Tourian, A., Treiman, L., and Abe, K., 1975, Three immunologically distinct isozymes of phenylalanine hydroxylase, Biochemistry 14:4055–4059.
Udenfriend, S., and Cooper, J. R., 1952, The enzymatic conversion of phenylalanine to tyrosine, J. Biol. Chem. 194:503–511.
Vandeman, P. R., 1963, Termination of dietary treatment for phenylketonuria, Am. J. Dis. Child. 100:492–495.
Wallace, H. W., Moldave, K., and Meister, A., 1957, Studies on conversion of phenylalanine to tyrosine in phenylpyruvic oligophrenia, Proc. Soc. Exp. Biol. Med. 94:632–633.
Wapnir, R. A., Hawkins, R. L., and Stevenson, J. H., 1971, Ontogenesis of phenylalanine and tryptophan hydroxylation in rat brain and liver, Biol. Neonate 118:85.
Watson, B. M., Schlesinger, P., and Cotton, R. G. H., 1977, Dihydroxanthropterinuria in phenylketonuria and lethal hyperphenylalaninemia patients, Clin. Chim. Ada 78:417–423.
Woo, S. L. C, Gilliam, S. S., and Woolf, L. I., 1974, The isolation and properties of phenylalanine hydroxylase from human liver, Biochem. J. 139:741–749.
Woolf, L. I., 1951, Excretion of conjugated phenylacetic acid in phenylketonuria, Biochem. J. 49:ix-x.
Woolf, L. I., Griffiths, R., and Moncrieff, A., 1955, Treatment of phenylketonuria with a diet low in phenylalanine, Br. J. Med. 1:57–64.
Zelnicek, E., and Slama, J., 1971, Phenypyruvate and o-hydroxyphenylacetate in phenylketonuric urine, Clin. Chim. Acta 35:496–497.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1983 Plenum Press, New York
About this chapter
Cite this chapter
Kaufman, S. (1983). Phenylketonuria and Its Variants. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 13. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8342-4_5
Download citation
DOI: https://doi.org/10.1007/978-1-4615-8342-4_5
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4615-8344-8
Online ISBN: 978-1-4615-8342-4
eBook Packages: Springer Book Archive