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Aminoaciduria in Familial Mental Retardation
CHARLES M. POSER, MD;
LEITHA BUNCH, MA
Arch Neurol. 1963;9(1):35-46.
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Introduction
A constant search has been going on in order to attempt to establish the metabolic basis of disturbances of the central nervous system characterized clinically by mental retardation. In addition to the now well-studied syndrome of phenylketonuria, a number of conditions such as maple syrup urine disease and Hartnup disease have been detected by the examination of urine and serum for the appearance of increased amounts of certain amino acids.
Two-dimensional paper chromatography provides a relatively simple method of carrying out surveys of large numbers of mentally retarded patients in order to discover the presence of hitherto unsuspected aminoacidurias in patients whose disorder is classified as idiopathic mental retardation.
The present study describes such a survey of patients with a well-documented familial history of idiopathic mental retardation institutionalized at the Winfield State Hospital and Training Center in Winfield, Kan.
Material
Eighty-seven patients were selected for examination, of which 66
. . . [Full Text PDF of this Article]
Author Affiliations
KANSAS CITY
From the Section of Neurology, Department of Medicine, University of Kansas Medical Center, Kansas City, Kansas, and the Winfield State Hospital and Training Center, Winfield, Kan.
Footnotes
Submitted for publication Dec 24, 1962; accepted, Feb 18, 1963.
Associate Professor of Medicine, Neurology, (Dr. Poser).
This study was supported by USPHS Grant MH 04660.
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