Phenylketonuria: Epitome of Human Biochemical Genetics

New England Journal of Medicine

Volumn 303, Issue 24, 1980, Pages 1394-1400

  Scriver, Charles R ^a   Clow, Carol L ^a  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CLASSIFICATION; CONGENITAL DISORDER; DIAGNOSIS; GENETIC SCREENING; GENETIC VARIABILITY; HYPERPHENYLALANINEMIA; MOLECULAR GENETICS; PHENYLKETONURIA;

CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DIET; FEMALE; HETEROZYGOTE DETECTION; HOMEOSTASIS; HUMAN; INFANT; INFANT, NEWBORN; INTELLIGENCE TESTS; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PREGNANCY; SUPPORT, NON-U.S. GOV'T;

EID: 0019177963     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM198012113032404     Document Type: Review

References (77)

1. Scriver C.R., Laberge C., Clow C.L. Genetic screening and allied services: structure, process and objective. In: Raine DN, ed. Medico-social management of inherited metabolic disease. Lancaster, England: MTP Press, 1977: 21-42.
2. Scriver C.R., Feingold M., Mamunes P., Nadler H.L. Screening for congenital metabolic disorders in the newborn infant: congenital deficiency of thyroid hormone and hyperphenylalaninemia. Pediatrics. 1977; 60:389-404.
3. Bailey S.W., Ayling J.E. Separation and properties of the 6-diastereo-isomers of l-erythro-tetrahydrobiopterin and their reactivities with phenylalanine hydroxylase. J Biol Chem. 1978; 253:1598-1605.
4. Watson B.M., Schlesinger P., Cotton R.G.H. Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients. Clin Chim Acta. 1977; 78:417-423.
5. Schlesinger P., Watson B.M., Cotton R.G.H., Danks D.M. Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria. Clin Chim Acta. 1979; 92:187-195.
6. Milstien S., Kaufman S., Summer G.K. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine. Pediatrics. 1980; 65:806-810.
7. Nixon J.C., Lee C.-L., Milstien S., Kaufman S., Bartholomé K. Neopterin and biopterin levels in patients with atypical forms of phenylketonuria. J Neurochem. (in press).
8. Curtius H.-C., Völlmin J.A., Baerlocher K. The use of deuterated phenylalanine for the elucidation of the phenylalanine-tyrosine metabolism. Clin Chim Acta. 1972; 37:277-285.
9. Milstien S., Kaufman S. Studies on the phenylalanine hydroxylase system in vivo: an in vivo assay based on the liberation of deuterium or tritium into the body water from ring-labeled L-phenylalanine. J Biol Chem. 1975; 250:4782-4785.
10. Trefz F.K., Bartholomé K., Bickel H., Lutz P., Schmidt H. In vivo determination of phenylalanine hydroxylase activity using heptadeuterophenylalanine and comparison to the in vitro assay values. Monogr Hum Genet. 1978; 9:108-113.
11. Fell V., Hoskins J.A., Pollitt R.J. The labeling of urinary acids after oral doses of deuterated L-phenylalanine and L-tyrosine in normal subjects: quantitative studies with implications for the deuterated phenylalanine load test in phenylketonuria. Clin Chim Acta. 1978; 83:259-269.
12. Danks D.M., Cotton R.G.H. Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia). J Pediatr. 1980; 96:854-856.
13. Kaufman S. Differential diagnosis of variant forms of hyperphenylalaninemia. Pediatrics. 1980; 65:840-842.
14. Berlow S. Progress in phenylketonuria: defects in the metabolism of biopterin. Pediatrics. 1980; 65:837-839.
15. American Academy of Pediatrics, The Task Force on Genetic Screening. The pediatrician and genetic screening (every pediatrician a geneticist). Pediatrics. 1976; 58:757-764.
16. Bickel H., Guthrie R., Hammersen G., eds. Neonatal screening for inborn errors of metabolism. New York: Springer-Verlag, 1980.
17. Screening for inborn errors of metabolism: report of a WHO Scientific Group. WHO Tech Rep Ser. 1968; 401:1-57.
18. Genetic disorders: prevention, treatment, and rehabilitation; report of a WHO Scientific Group. WHO Tech Rep Ser. 1972; 497:1-46.
19. Scriver C.R. Screening, counseling, and treatment for phenylketonuria: lessons learned — a précis. In: Lubs HA, de la Cruz F, eds. Genetic counseling. New York: Raven Press, 1977: 253-62.
20. McCaman M.W., Robins E. Fluorometric method for the determination of phenylalanine in serum. J Lab Clin Med. 1962; 59:885-890.
21. Ambrose J.A., Ross C., Whitfield F. An ultra micro automated method (autoanalyzer) for the fluorometric determination of phenylalanine. Tech Symp. 1967; 1:13.
22. Guthrie R., Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics. 1963; 32:338-343.
23. Starfield B., Holtzman N.A. A comparison of effectiveness of screening for phenylketonuria in the United States, United Kingdom and Ireland. N Engl J Med. 1975; 293:118-121.
24. Thalhammer O., et al. A Collaborative Study. Frequency of inborn errors of metabolism, especially PKU, in some representative new-born screening centers around the world: a collaborative study. Humangenetik. 1975; 30:273-286.
25. Veale A.M.O. Screening for hereditary metabolic disorders: screening for phenylketonuria. In: Bickel H, Guthrie R, Hammersen G, eds. Neonatal screening for inborn errors of metabolism. New York: Springer-Verlag, 1980: 7-18.
26. Lang K. Die Phenylpyruvische Oligophrenie. Ergeb Inn Med Kinderheilkd. 1955; 6:78-99.
27. Fisch R.O., Bilek M.K., Bruhl H.H. Causes of death of institutionalized phenylketonuric (PKU) patients — a national survey. Minn Med. 1976; 59:306-309.
28. Forssman H., Åkesson H.O. Mortality of the mentally deficient: a study of 12,903 institutionalized subjects. J Ment Defic Res. 1970; 14:276-294.
29. Bush J.W., Chen M.M., Patrick D.L. Health status index in cost effectiveness: analysis of PKU program. In: Berg RL, ed. Health status indexes. London: Hospital Research and Educational Trust, 1973: 172-209.
30. Sepe S.J., Levy H.L., Mount F.W. An evaluation of routine follow-up blood screening of infants for phenylketonuria. N Engl J Med. 1979; 300:606-609.
31. Meryash D.L., Carr J.R., Levy H.L. A prospective study of early new-born screening for PKU. Pediatr Res. 1980; 14:525. abstract.
32. Guthrie R., Warner R. Laying the myth of the “slow rise” of phenylalanine blood levels in “classical” phenylketonuria. Pediatr Res. 1980; 14:522. abstract.
33. Bickel H. Dietary restriction in inborn errors of amino acid metabolism. Curr Concepts Nutr. 1979; 8:35-53.
34. Clow C.L., Scriver C.R. Resources for nutritional treatment: basic principles and a national “Food Bank.” In: Raine DN, ed. Medico-social management of inherited metabolic disease. Lancaster, England: MTP Press, 1977: 149-65.
35. Kindt E., Halvorsen S. The need of essential amino acids in children: an evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease. Am J Clin Nutr. 1980; 33:279-286.
36. Bickel H., Schmidt H., Schurrle L. Dietary treatment of inborn errors of amino acid and carbohydrate metabolism. Bibl Nutr Dieta. 1973; 18:181-201.
37. Holt L.E. Jr., Snyderman S.E. The amino acid requirements of infants. JAMA. 1961; 175:100-103.
38. American Academy of Pediatrics, Committee on Nutrition. Special diets for infants with inborn errors of amino acid metabolism. Pediatrics. 1976; 57:783-791.
39. Smith I., Francis D.E.M., Clayton B.E., Wolff O.H. Comparison of an amino acid mixture and protein hydrolysates in treatment of infants with phenylketonuria. Arch Dis Child. 1975; 50:864-870.
40. Nayman R., Thomson M.E., Scriver C.R., Clow C.L. Observations on the composition of milk-substitute products for treatment of inborn errors of amino acid metabolism: comparisons with human milk: a proposal to rationalize nutrient content of treatment products. Am J Clin Nutr. 1979; 32:1279-1289.
41. Berry H.K., Sutherland B.S., Hunt M.M., Fogelson M.H., O#x0027;Grady D. Treatment of children with phenylketonuria using a phenylalanine-free protein hydrolysate (Albumaid XP). Am J Clin Nutr. 1976; 29:351-357.
42. Parker C.E., Shaw K.N.F., Mitchell J.B., Koch R., Wenz E., Fishler K. Clinical experience in dietary management of phenylketonuria with a new phenylalanine-free product. J Pediatr. 1977; 91:941-943.
43. Scriver C.R. A biomedical view of enzyme replacement strategies in genetic disease. In: Chang TMS, ed. Biomedical applications of immobilized enzymes and proteins. Vol. 1. New York: Plenum Press, 1977: 121-46.
44. Weiss B., Hui M., Lajtha A. Entrapment of phenylalanine hydroxylase in a polyacrylamide matrix. Biochem Med. 1977; 18:330-343.
45. Ambrus C.M., Ambrus J.L., Horvath C., et al. Phenylalanine depletion for the management of phenylketonuria: use of enzyme reactors with immobilized enzymes. Science. 1978; 201:837-839.
46. Hoskins J.A., Jack G., Wade H.E., et al. Enzymatic control of phenylalanine intake in phenylketonuria. Lancet. 1980; 1:392-393.
47. Lines D.R., Waisman H.A. Renal amino acid reabsorption in hyperphenylalaninemic monkeys infused with β-2-thenylalanine. Proc Soc Exp Biol Med. 1970; 134:1061-1064.
48. Andersen A.E., Avins L. Lowering brain phenylalanine levels by giving other large neutral amino acids: a new experimental therapeutic approach to phenylketonuria. Arch Neruol. 1976; 33:684-686.
49. Robinson J.W.L. Inhibition of phenylalanine influx in guinea-pig small intestine by naringenin. J Physiol (Lond). 1979; 289:44P-5P.
50. Smith I., Wolff O.H. Natural history of phenylketonuria and influence of early treatment. Lancet. 1974; 2:540-544.
51. Dobson J.C., Kushida E., Williamson M., Friedman E.G. Intellectual performance of 36 phenylketonuria patients and their nonaffected siblings. Pediatrics. 1976; 58:53-56.
52. Dobson J.C., Williamson M.L., Azen C., Koch R. Intellectual assessment of 111 four-year-old children with phenylketonuria. Pediatrics. 1977; 60:822-827.
53. Cabalska B., Duczyńska N., Borzymowska J., Zorska K., Koślacz-Folga A., Bożkowa K. Termination of dietary treatment in phenylketonuria. Eur J Pediatr. 1977; 126:253-262.
54. Thalhammer O., Havelec L., Knoll E., Wehle E. Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Hum Genet. 1977; 38:285-288.
55. Berry H.K., O#x0027;Grady D.J., Perlmutter L.J., Bofinger M.K. Intellectual development and academic achievement of children treated early for phenylketonuria. Dev Med Child Neurol. 1979; 21:311-320.
56. Rolle-Daya H., Pueschel S.M., Lombroso C.T. Electroencephalographic findings in children with phenylketonuria. Am J Dis Child. 1975; 129:869-900.
57. Koff E., Boyle P., Pueschel S.M. Perceptual-motor functioning in children with phenylketonuria. Am J Dis Child. 1977; 131:1084-1087.
58. Stevenson J.E., Hawcroft J., Lobascher M., Smith I., Wolff O.H., Graham P.J. Behavioural deviance in children with early treated phenylketonuria. Arch Dis Child. 1979; 54:14-18.
59. Wrona R.M. A clinical epidemiologic study of hyperphenylalaninemia. Am J Public Health. 1979; 69:673-679.
60. Holtzman N.A., Welcher D.W., Mellits E.D. Termination of restricted diet in children with phenylketonuria: a randomized controlled study. N Engl J Med. 1975; 293:1121-1124.
61. Koff E., Kammerer B., Boyle P., Pueschel S.M. Intelligence and phenylketonuria: effects of diet termination. J Pediatr. 1979; 94:534-537.
62. Smith I., Lobascher M.E., Stevenson J.E., et al. Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria. Br Med J. 1978; 2:723-726.
63. Williamson M., Koch R., Berlow S. Diet discontinuation in phenylketonuria. Pediatrics. 1979; 63:823-824.
64. Komrower G.M., Sardharwalla I.B., Coutts J.M.J., Ingham D. Management of maternal phenylketonuria: an emerging clinical problem. Br Med J. 1979; 1:1383-1387.
65. Smith I., Erdohazi M., Macartney F.J., et al. Fetal damage despite low-phenylalanine diet after conception in a phenylketonuric woman. Lancet. 1979; 1:17-19.
66. Buist N.R.M., Lis E.W., Tuerck J.M., Murphey W.H. Maternal phenylketonuria. Lancet. 1979; 2:589.
67. Farquhar J.W. Conception in a phenylketonuric woman. Lancet: 1979; 1:322.
68. Pueschel S.M., Hum C., Andrews M. nutritional management of the female with phenylketonuria during pregnancy. Am J Clin Nutr. 1977; 30:1153-1161.
69. Lombeck I., Kasperek K., Feinendegen L.E., Bremer H.J. Serum-selenium concentrations in patients with maple-syrup-urine disease and phenylketonuria under dieto therapy. Clin Chim Acta. 1975; 64:57-61.
70. Wapnir R.A., Moak S.A., Lifshitz F. Decreased foetal amino acid up-take, brain pyruvate kinase and intrauterine damage in maternal PKU. Nature. 1977; 265:647-648.
71. Ford R.C., Berman J.L. Phenylalanine metabolism and intellectual functioning among carriers of phenylketonuria and hyperphenylalaninemia. Lancet. 1977; 1:767-770.
72. Woolf L.I. The high frequency of phenylketonuria in Ireland and Western Scotland. J Inher Metab Dis. 1978; 1:101-103.
73. Scriver C.R., Clow C.L. Phenylketonuria and other phenylalanine hydroxylation mutants in man. Ann Rev Genet. 1980; 14:180-212.
74. Kaufman S., Max E.E., Kang E.S. Phenylalanine hydroxylase activity in liver biopsies from hyperphenylalaninemia heterozygotes: deviation from proportionality with gene dosage. Pediatr Res. 1975; 9:632-634.
75. Gold R.J.M., Maag U.R., Neal J.L., Scriver C.R. The use of biomedical data in screening for mutant alleles and in genetic counselling. Ann Hum Genet. 1974; 37:315-326.
76. Griffin R.F., Elsas L.J. Classic phenylketonuria: diagnosis through heterozygote detection. J Pediatr. 1975; 86:512-517.
77. Paul T.D., Brandt I.K., Elsas L.J. Phenylketonuria heterozygote detection in families with affected children. Am J Hum Genet. 1978; 30:293-301.