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Disorders of Amino Acid Metabolism and Mental Retardation

  • Harry A. Waisman

Abstract

Early in the twentieth century, the progress made in organic chemistry and in genetics came at a propitious time because a number of observations were made by astute physicians which advanced the concept that certain diseases occurred in families and were characterized by excretion of unusual chemicals in the urine. Garrod (1909) deservedly is credited with recognizing that an “inborn error of metabolism” was a distinct medical entity. In the sixty or more years since these cases were first described, substantial data have been provided that amino acids, carbohydrates and some lipid components are all involved in abnormalities seen in humans. This literature has been reviewed by Hsia, 1966 and by Stanberry, Wynngarden and Fredrickson, 1970. Many of these disease states have, as part of their clinical presentation, some associated brain involvement.

Keywords

Mental Retardation Amino Acid Metabolism Inborn Error Phenylalanine Hydroxylase Maple Syrup Urine Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. CHAMOVE, A., WAISMAN, H. A., & HARLOW, H. F. Abnormal social behavior in Phenylketonuric monkeys. Journal of Abnormal Psychology, in Press, 1970.Google Scholar
  2. FØLLING, P. Uber ausscheidung von pheny1-brenz-traubensaüre in den harn als stoffwechsel anomalie in Verbindung mit imbezillitat. Zietschrift für Physiol isches Chemie, 1934, 227, 169.CrossRefGoogle Scholar
  3. GARROD, A. E. Inborn Errors of Metabolism. London: Henry Frowde, 1909.Google Scholar
  4. GERRITSEN, T., KAVEGGIA, E., & WAISMAN, H. A. A new type of idiopathic hyperglycinemia with hypo oxaluria. Pediatrics, 1965, 36, 882–891.PubMedGoogle Scholar
  5. GERRITSEN, T., & WAISMAN, H. A. Homocystinuria an error in the metabolism of methionine. Pediatrics, 1964, 33, 413–420.PubMedGoogle Scholar
  6. GERRITSEN, T., & WAISMAN, H. A. Hypersarcosinemia, an inborn error of metabolism. New England Journal of Nedicine, 1966, 275, 66–69.CrossRefGoogle Scholar
  7. GHADIMI, H., BINNINGTON, V. I., & PECORA, P. Hyperlysinemia associated with mental retardation. New England Journal of Medicine, 1965, 273, 723–729.PubMedCrossRefGoogle Scholar
  8. GHADIMI, H., PARTINGTON, M. W., & HUNTER, A. A familial disturbance of histidine metabolism. New England Journal of Medicine, 1961, 265, 221–224.PubMedCrossRefGoogle Scholar
  9. HARRIS, H., PENROSE, L. S., & THOMAS, D. H. H. Cystathionuria. Annals Human Genetics, 1959, 23, 442.CrossRefGoogle Scholar
  10. HSIA, D. Y-Y. Inborn Entions of Metabolism. (Second ed.) Chicago: Year Book Medical Publishers, Inc., 1966.Google Scholar
  11. KERR, G. R., Chamove, A. S., HARLOW, H. F., & WAISMAN, H. A., “Fetal PKU”. The effect of maternal hyperphenylalaninemia during pregnancy in the rhesus monkey (Macaca mulatta). Pediatrics, 1968, 42, 27–35.PubMedGoogle Scholar
  12. KERR, G. R., & WAISMAN, H. A. Phenylalanine: Transplacental concentrations in rhesus monkeys. Science, 1966, 151, 824–825.CrossRefGoogle Scholar
  13. KOMROWRER, G. M., WILSON, V., CLAMP, J., & WESTALL, R. G. Hydroxykynureninuria. Archives of Diseases of Children, 1964, 39, 250.CrossRefGoogle Scholar
  14. MCMURRAY, W. C. Citrullinuria. Pediatrics, 1963, 32, 347.PubMedGoogle Scholar
  15. MEDES, G. A new error of tyrosine metabolism: tyrosinosis. Biochemical Journal, 1932, 26, 917.PubMedGoogle Scholar
  16. MENKES, J. H. Maple syrup disease-investigations into the metabolic defect. Neurology, 1959, 9, 826–835.Google Scholar
  17. STANBURY, J. B., WYNNGARDEN, J. B., & FREDRICKSON, D. S. Metabolic Basis of Inherited Disease. (Third ed.) New York: McGraw-Hill, 1970.Google Scholar
  18. WAISMAN, H. A. Role of hyperphenylalaninemia in pregnant women as a cause of mental retardation in offspring. American Journal of Obstetris & Gynecology, 1967a, 99, 43–45.Google Scholar
  19. WAISMAN, H. A. Variations in clinical and laboratory findings in histidinemia. American Journal Diseases of Children, 1967b, 113, 93–94.Google Scholar
  20. WAISMAN, H. A. Hyperphenylalaninemia: clinical and experimental considerations. Proceedings of the First Congress of the International Association for the Scientific Study of Mental Deficiency, Montpellier, France. Michael Jackson Publishing Co., Ltd., 1968.Google Scholar
  21. WAISMAN, H. A., & KERR, G. R. Amino acid and protein metabolism in the developing fetus and the newborn infant. Pediatric Clinics of North America, 1965, 12, 551–572.PubMedGoogle Scholar
  22. WANG, H. L., MORTON, N. E., & WAISMAN, H. A. Increased reliability for the determination of the carrier state in phenylketonuria. American Journal of Human Genetics, 1961, 13, 255–261.PubMedGoogle Scholar

Copyright information

© Plenum Press, New York 1970

Authors and Affiliations

  • Harry A. Waisman
    • 1
  1. 1.Joseph P. Kennedy, Jr. Memorial LaboratoriesUniversity of Wisconsin Medical CenterMadisonUSA

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