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Etiologic Factors in Mental DeficiencyErrors of Metabolism That May Lead to Mental Deficiency
STANLEY W. WRIGHT, M.D.;
GEORGE TARJAN, M.D.;
RICHARD W. LIPPMAN, M.D.;
THOMAS L. PERRY, M.D.
AMA J Dis Child. 1958;95(5):541-562.
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Introduction
In certain mental deficiencies an association has been established between the mental defect and a genetically determined biochemical abnormality. For instance, in the phenylketonuric person there is a specific biochemical defect, with the mode of inheritance well known; in others, e. g., the Mongoloid patient, a biochemical defect may be present and the question of inheritance is still debated. Though patients with known biochemical defects constitute only a small portion of all the mental defectives, the number of specific syndromes identified is increasing as the result of continuing research. This rapidly expanding knowledge warrants a summary, with a hope that it will stimulate clinical search for additional patients and entities.
In those conditions where the biochemical abnormality is well understood, the basic mechanism is a genetically determined defect in enzyme function, which manifests itself in deviant metabolism of a specific nutrient or substrate. Our classification is in accordance with
. . . [Full Text PDF of this Article]
Author Affiliations
Pomona, Calif
From the Departments of Pediatrics and Psychiatry, University of California Medical Center, Los Angeles, and Pacific State Hospital, Pomona, Calif., and the Division of Chemistry and Chemical Engineering (Contribution No. 2254), California Institute of Technology, Pasadena, Calif.
Footnotes
Submitted for publication Sept. 19, 1957.
This work was supported in part by the Gerber Baby Food Fund Award for Research in Infant Nutrition and by the Ford Foundation.
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