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Hyperphenylalanemia Without Phenylketonuria

Hyperphenylalanemia Without Phenylketonuria Abstract THE WIDESPREAD screening for phenylketonuria (PKU) among newborn infants has led to the recognition that not all instances of hyperphenylalanemia is caused by phenylketonuria.1-5 At the present time, relatively little is known about the distribution of true PKU and of hyperphenylalanemia without PKU in newborns with elevated phenylalanine but normal tyrosine values in serum. Even less is known about the duration of this latter form of hyperphenylalanemia and whether these increased levels are harmful to mental development. Other than carrying out a long-term controlled study on the value of the lowphenylalanine diet in all infants with hyperphenylalanemia, which would be difficult to justify, the problem can be answered in part by examining the following: (1) the frequency of hyperphenylalanemia in the general population with normal intelligence; (2) the frequency of hyperphenylalanemia in the mentally-retarded population in institutions; and (3) the clinical and laboratory findings during early infancy of all References 1. Berry, Helen K. (ed.): Proceedings of Conference on Treatment of Phenylketonuria, Cincinnati, Ohio, Jan 7, 1966, J Pediat, to be published. 2. Anderson, John A. (ed.): Proceedings of Conference on Treatment of Phenylketonuria and Allied Metabolic Diseases, Washington, DC, April 6-8, 1966, US Government Printing Office, to be published. 3. Anderson, J.A., et al: Atypical Phenylketonuric Heterozygote , J Pediat 68:351, 1966.Crossref 4. Schneider, A.J., and Garrard, D.S.: Persistent Hyperphenylalanemia , J Pediat 68:704, 1966.Crossref 5. Berlow, S., and Arends, R.L.: Neonatal Phenylalanemia in Heterozygotes for Phenylketonuria , J Pediat 68:835, 1966. 6. McCaman, M.W., and Robins, E.: Fluorometric Method for the Determination of Phenylalanine in Serum , J Lab Clin Med 59:885, 1962. 7. Wong, P.W.K.; O'Flynn, M.E.; and Inouye, T.: Micromethods for Measuring Phenylalanine and Tyrosine in Serum , Clin Chem 10:1098, 1964. 8. Borek, E., et al: Oligophrenia Phenylpyruvica: Constancy of the Metabolic Error , Proc Soc Exp Biol Med 75:86, 1950.Crossref 9. Hsia, D.Y.Y., et al: A One Year Controlled Study of the Effect of Low-Phenylalanine Diet on Phenylketonuria , Pediatrics 21:178, 1958. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1967 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1967.02090160072005
Publisher site
See Article on Publisher Site

Abstract

Abstract THE WIDESPREAD screening for phenylketonuria (PKU) among newborn infants has led to the recognition that not all instances of hyperphenylalanemia is caused by phenylketonuria.1-5 At the present time, relatively little is known about the distribution of true PKU and of hyperphenylalanemia without PKU in newborns with elevated phenylalanine but normal tyrosine values in serum. Even less is known about the duration of this latter form of hyperphenylalanemia and whether these increased levels are harmful to mental development. Other than carrying out a long-term controlled study on the value of the lowphenylalanine diet in all infants with hyperphenylalanemia, which would be difficult to justify, the problem can be answered in part by examining the following: (1) the frequency of hyperphenylalanemia in the general population with normal intelligence; (2) the frequency of hyperphenylalanemia in the mentally-retarded population in institutions; and (3) the clinical and laboratory findings during early infancy of all References 1. Berry, Helen K. (ed.): Proceedings of Conference on Treatment of Phenylketonuria, Cincinnati, Ohio, Jan 7, 1966, J Pediat, to be published. 2. Anderson, John A. (ed.): Proceedings of Conference on Treatment of Phenylketonuria and Allied Metabolic Diseases, Washington, DC, April 6-8, 1966, US Government Printing Office, to be published. 3. Anderson, J.A., et al: Atypical Phenylketonuric Heterozygote , J Pediat 68:351, 1966.Crossref 4. Schneider, A.J., and Garrard, D.S.: Persistent Hyperphenylalanemia , J Pediat 68:704, 1966.Crossref 5. Berlow, S., and Arends, R.L.: Neonatal Phenylalanemia in Heterozygotes for Phenylketonuria , J Pediat 68:835, 1966. 6. McCaman, M.W., and Robins, E.: Fluorometric Method for the Determination of Phenylalanine in Serum , J Lab Clin Med 59:885, 1962. 7. Wong, P.W.K.; O'Flynn, M.E.; and Inouye, T.: Micromethods for Measuring Phenylalanine and Tyrosine in Serum , Clin Chem 10:1098, 1964. 8. Borek, E., et al: Oligophrenia Phenylpyruvica: Constancy of the Metabolic Error , Proc Soc Exp Biol Med 75:86, 1950.Crossref 9. Hsia, D.Y.Y., et al: A One Year Controlled Study of the Effect of Low-Phenylalanine Diet on Phenylketonuria , Pediatrics 21:178, 1958.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Jan 1, 1967

References