Disorders of Amino Acid Metabolism and Mental Retardation
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.
KeywordsMental Retardation Amino Acid Metabolism Inborn Error Phenylalanine Hydroxylase Maple Syrup Urine Disease
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- CHAMOVE, A., WAISMAN, H. A., & HARLOW, H. F. Abnormal social behavior in Phenylketonuric monkeys. Journal of Abnormal Psychology, in Press, 1970.Google Scholar
- GARROD, A. E. Inborn Errors of Metabolism. London: Henry Frowde, 1909.Google Scholar
- HSIA, D. Y-Y. Inborn Entions of Metabolism. (Second ed.) Chicago: Year Book Medical Publishers, Inc., 1966.Google Scholar
- MENKES, J. H. Maple syrup disease-investigations into the metabolic defect. Neurology, 1959, 9, 826–835.Google Scholar
- STANBURY, J. B., WYNNGARDEN, J. B., & FREDRICKSON, D. S. Metabolic Basis of Inherited Disease. (Third ed.) New York: McGraw-Hill, 1970.Google Scholar
- 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
- WAISMAN, H. A. Variations in clinical and laboratory findings in histidinemia. American Journal Diseases of Children, 1967b, 113, 93–94.Google Scholar
- 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