Hostname: page-component-745bb68f8f-g4j75 Total loading time: 0 Render date: 2025-01-09T22:23:41.899Z Has data issue: false hasContentIssue false
  • English
  • Français

Phenylketonuria

A review and a report of the pathological findings in four cases

Published online by Cambridge University Press:  08 February 2018

L. Crome  and
C. M. B. Pare
L. Crome
Affiliation:
Fountain Hospital, and the Bethlem Royal and the Maudsley Hospital London
C. M. B. Pare
Affiliation:
Fountain Hospital, and the Bethlem Royal and the Maudsley Hospital London
Get access Rights & Permissions [Opens in a new window]

Extract

Phenylketonuria is an inborn error of metabolism characterized by excretion of phenylpyruvic acid in the urine and usually by severe mental defect and certain bodily features of which dilution of pigment is the most noticeable.

Type
Original Articles
Information
Journal of Mental Science , Volume 106 , Issue 444 , July 1960 , pp. 862 - 883
Copyright
Copyright © Royal College of Psychiatrists, 1960 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Adams, C. W. M., J. Path. Bact., 1959, 77, 648.Google Scholar
Allen, D. W., and Schroeder, W. A., J. clin. Invest., 1957, 36, 1343.Google Scholar
Alvord, E. C., Stevenson, L. D., Vogel, R. S., and Angle, R. L., J. Neuropath. exp. Neurol., 1950, 9, 298.CrossRefGoogle Scholar
Armstrong, M. D., 1958, quoted by Pare, C. M. B., Sandler, M., and Stacey, R. S., Arch. Dis. Childh., 1959, 34, 422.Google Scholar
Idem and Binkley, E. L., Proc. Soc. exp. Biol., N. Y., 1956, 93, 418.Google Scholar
Idem , McMillan, A., and Shaw, K. N. F., Biochem. biophys. Act. Amstr., 1957, 25, 422.Google Scholar
Idem and Robinson, K. S., Arch. Biochem., 1954, 52, 287.Google Scholar
Idem and Shaw, K. N. F., J. biol Chem., 1955, 213, 805.Google Scholar
Iidem and Robinson, K. S., ibid., 1955, 213, 797.Google Scholar
Idem and Tyler, F. H., J. clin. Invest., 1955, 34, 565.Google Scholar
Baldridge, R. C., Borofsky, L., Baird, H., Reichle, F., and Bullock, B., Proc. Soc. exp. Biol., N.Y., 1959, 100, 529.Google Scholar
Benda, C. E., Developmental Disorders of Mentation and Cerebral Palsies, 1952. New York: Grune ' Stratton, p. 451.Google Scholar
Berendes, H., Anderson, J. A., Ziegler, M. R., and Ruttenberg, D., Amer. J. Dis. Child., 1958, 96, 430.Google Scholar
Berg, J. M., and Stern, J., Ann. hum. Genet., Lond., 1958, 22, 370.Google Scholar
Berry, H. K., Sutherland, B. S., Guest, G. M., and Umbarger, B., Pediatrics, 1958, 21, 929.Google Scholar
Bickel, H., Gerrard, J., and Hickmans, E. M., Lancet, 1953, ii, 812.Google Scholar
Bickis, I. J., Kennedy, J. B., and Quastel, J. H., Nature, Lond., 1957, 179, 1124.Google Scholar
Blainey, J. D., and Gulliford, R., Arch. Dis. Childh., 1956, 31, 452.Google Scholar
Blaschko, H., Pharmacol Rev., 1954, 6, 23.Google Scholar
Bonfiglio, G., Lav. neuropsichiat., 1954, 14, 516.Google Scholar
Borek, E., Brecher, A., Jervis, G. A., and Waelsch, H., Proc. Soc. exp. Biol, N. Y., 1950, 75, 86.Google Scholar
Boscott, R. J., and Bickel, H., Scand. J. clin. Lab. Invest., 1953, 5, 380.CrossRefGoogle Scholar
Idem and Kirman, B. H., Biochem. J. (Proc.), 1955, 60, iv.Google Scholar
Brimblecombe, F. S. W., Stoneman, M. E. R., and Maliphant, R., Lancet, 1959, i, 609.Google Scholar
Cawte, J. E., Med. J. Aust., 1954, 2, 15.Google Scholar
Idem , J. ment. def. Res., 1957, 1, 111.Google Scholar
Coates, S., Norman, A. P., and Woolf, L. I., Arch. Dis. Childh., 1957, 32, 313.Google Scholar
Cohen, P., and Kozinn, P. J., J. Pediat., 1949, 34, 76.Google Scholar
Copoletta, J. M., and Wolbach, S. B., Amer. J. Path., 1933, 9, 55.Google Scholar
Coquet, M., Myle, G., Nyssen, R., and van Bogaert, L., Msch. Psychiat. Neurol, 1944, 109, 133.CrossRefGoogle Scholar
Corsellis, J. A. N., J. Neurol. Neurosurg. Psychiat., 1953, 16, 139.Google Scholar
Cowie, V. A., J. Ment. Sci., 1951, 97, 505.CrossRefGoogle Scholar
Idem , Lancet, 1951, i, 272.Google Scholar
Idem and Brandon, M. W. G., J. ment. def. Res., 1958, 2, 55.Google Scholar
Idem and Penrose, L. S., Ann. Eugen. Camb., 1951, 15, 301.Google Scholar
Dalgliesh, C. E., Biochem. J. (Proc), 1954, 58, xlv.Google Scholar
Dancis, J., and Balis, M. E., Pediat., 1955, 15, 63.Google Scholar
Davison, A. N., Ruthven, C. R. J., and Sandler, M., 1959. Personal communication.Google Scholar
Idem and Sandler, M., Nature, Lond., 1958, 181, 186.Google Scholar
Elliott, K. A. C., Fourth International Congress of Biochemistry: Vol. III—Biochemistry of the Central Nervous System, 1959. London: Pergamon Press, p. 251.Google Scholar
Fellman, J. H., Proc. Soc. exp. Biol, N. Y., 1956, 93, 413.Google Scholar
Idem , J. Neurol. Neurosurg. Psychiat., 1958, 21, 58.Google Scholar
Ferriera-Fernandes, J., Brasil med., 1950, 64, 225.Google Scholar
Foley, J. M., and Baxter, D., J. Neuropath, exp. Neurol., 1958, 17, 586.Google Scholar
F⊘lling, A., Mohr, O. L., and Ruud, L., Skr. Norske. Vidersk. Acad., 1944, No. 13.Google Scholar
Freeman, W., Brain, 1927, 50, 188.Google Scholar
Gibbs, F. A., and Gibbs, E. L., Atlas of Electroencephalography, 1941. Cambridge 42, Mass.: Addison-Wesley Press Inc., p. 187.Google Scholar
Hanson, A., Naturwiss., 1958, 45, 423.CrossRefGoogle Scholar
Hassel, C. W., and Brunsting, L. A., Arch. Derm. Syph., Chicago, 1959, 79, 458.Google Scholar
Hilliard, L. T., and Kirman, B. H., Mental Deficiency, 1957. London: J. ' A. Churchill Ltd., p. 333.Google Scholar
Himwich, H. E., and Fazekas, J. F., Arch. Neurol. Psychiat., Chicago, 1940, 44, 1213.CrossRefGoogle Scholar
Iidem , ibid., 1944, 51, 73.Google Scholar
Horner, F. A., and Streamer, C. W., J. Amer. med. Ass., 1956, 161, 1628.Google Scholar
Hsia, D. Y.-Y., J. ment. def. Res., 1958, 2, 8.Google Scholar
Idem , Driscoll, K. W., Troll, W., and Knox, W. E., Nature, Lond., 1956, 178, 1239.Google Scholar
Idem , Knox, W. E., and Paine, R. S., Amer. J. Dis. Child., 1957, 94, 33.Google Scholar
Iidem , Quinn, K. V., and Paine, R. S., Pediatr., 1958, 21, 178.Google Scholar
Idem , Paine, R. S., and Driscoll, K. W., J. ment. def. Res., 1957, 1, 53.Google Scholar
Jervis, G. A., Arch. Neurol. Psychiat., Chicago, 1937, 38, 944.CrossRefGoogle Scholar
Idem , J. Ment. Sci., 1938, 85, 791.Google Scholar
Idem , J. biol. Chem., 1947, 169, 651.CrossRefGoogle Scholar
Idem , Proc. Soc. exp. Biol, N. Y., 1950, 75, 83.CrossRefGoogle Scholar
Idem , ibid., 1952, 81, 715.Google Scholar
Idem , ibid., 1953, 82, 514.Google Scholar
Idem , “Phenylpyruvic oligophrenia (Phenylketonuria)”, in Genetics and the Inheritance of Integrated Neurological and Psychiatric Patterns, 1954. New York: The Williams ' Wilkins Co., p. 259.Google Scholar
Idem , Block, R. J., Bolling, D., and Kanze, E., J. biol. Chem., 1940, 134, 105.Google Scholar
Josephy, H., Illinois med. J., 1948, 94, 107.Google Scholar
Kaufman, S., Science, 1958, 128, 1506.Google Scholar
Kirman, B. H., Pare, C. M. B., Sandler, M., and Stacey, R. S. Neuropsychopharmacological Congress, 1958. Rome.Google Scholar
Iidem , 1959. Unpublished work.Google Scholar
Klein, D., Msch. Psychiat. Neurol, 1946, 111, 273.Google Scholar
Knox, W. E., and Hsia, D. Y.-Y., Amer. J. Med., 1957, 22, 687.Google Scholar
Lawson, C. A., Hereditas (Lund.), 1950, 36, 109.Google Scholar
Leoni, G., G. Psichiat. Neuropat., 1953, 81, 775.Google Scholar
Low, N. L., Armstrong, M. D., and Carlisle, J. W., Lancet, 1956, ii, 917.Google Scholar
Idem , Bosma, J. F., and Armstrong, M. D., Electroenceph. clin. Neurophysiol., 1957, 9, 159.Google Scholar
Mautner, H., and Quinn, K. V., Ann. paediat., 1949, 172, 1.Google Scholar
Meyer, A., and Cook, L. C., J. Ment. Sci., 1937, 83, 258.Google Scholar
Idem and Jones, T. B., ibid, 1939, 85, 206.Google Scholar
Mitoma, C., Auld, R. M., and Udenfriend, S., Proc. Soc. exp. Biol, N. Y., 1957, 94, 634.Google Scholar
Idem , Posner, H. S., Bogdanski, D. F., and Udenfriend, S., J. Pharmacol., 1957, 120, 188.Google Scholar
Miyamoto, M., and Fitzpatrick, T. B., Nature, Lond., 1957, 179, 199.Google Scholar
Munro, T. A., Ann. Eugen. Camb., 1947, 14, 60.Google Scholar
Norman, R. M., “Phenylketonuria”, in Blackwood, W., MacMenemey, W. H., Meyer, A. and Norman's, R. M. Neuropathology, 1958. London: Edward Arnold, p. 399.Google Scholar
Paine, R. S., Pediatrics, 1957, 20, 290.Google Scholar
Pare, C. M. B., Sandler, M., and Stacey, R. S., Lancet, 1957, i, 551.Google Scholar
Iidem , ibid., 1958, ii, 1099.Google Scholar
Iidem, Arch. Dis. Childh., 1959, 34, 422.Google Scholar
Penrose, L. S., Lancet, 1939, i, 572.Google Scholar
Idem , ibid., 1946, i, 949.Google Scholar
Peters, G., “Die Storungen des Lipoid-, Kohlenhydrat-, Eiweisstoffwechsels”, in Lubarsch, O., Henke, F. and Rössle's, R. Handbuch der Speziellen Pathologischen Anatomie und Histologic, vol. 13, part 2 “Nervensystem”, edited by Scholz, W., 1958. Berlin: Springer, p. 1831.Google Scholar
Pond, D. A., 1959. Personal communication.Google Scholar
Poser, C. M., and van Bogaert, L., Brain, 1959, 82, 1.Google Scholar
Sander, G., Inaug. Dissert., 1951. University of Zurich.Google Scholar
Sandler, M., and Close, H. G., Lancet, 1959, ii, 316.Google Scholar
Idem , Davies, A., and Rimington, C., Lancet, 1959, ii, 318.Google Scholar
Scholz, A., Encéphale, 1957, 46, 668.Google Scholar
Snyderman, S. E., Norton, P., and Holt, L. E., Fed. Proc., 1955, 14, 450.Google Scholar
Spector, S., Prockop, D., Shore, P. A., and Brodie, B. B., Science, 1958, 127, 704.Google Scholar
Tashian, R. E., ibid., 1959, 129, 1553.Google Scholar
Tower, D. B., Fourth International Congress of Biochemistry: Vol III—Biochemistry of the Central Nervous System, 1959. London: Pergamon Press, p. 213.Google Scholar
Wallace, H. W., Moldave, K., and Meister, A., Proc. Soc. exp. Biol, N. Y., 1957, 94, 632.Google Scholar
Weil-Malherbe, H., J. Ment. Sci., 1955, 101, 733.Google Scholar
Woolf, L. I., Biochem. J. (Proc.), 1951, 49, ix.Google Scholar
Idem , Griffiths, R., and Moncrieff, A., Brit. med. J., 1954, i, 57.Google Scholar
Iidem , ibid., 1955, i, 1957.Google Scholar
Iidem , Coates, S., and Dillistone, F., Arch. Dis. Childh., 1958, 33, 31.Google Scholar
Wright, S. W., and Tarjan, G., Amer. J. Dis. Child., 1957, 93, 405.Google Scholar
Submit a response

eLetters

No eLetters have been published for this article.